SERPIGINOUS LESIONS

Granuloma inguinale – papule or nodule breaks down to form ulcer with overhanging edge; deep extension may occur; or serpiginous extension with vegetative hyperplasia; pubis, genitalia, perineum; extragenital lesions of nose and lips, or extremities JAAD 32:153-154, 1995; JAAD 11:433-437, 1984 Herpes simplex Jellyfish envenomation Caputo p.167, 2000 Larva currens Dermatol Clin 7:275-290, 1989; AD 124:1826-1830, 1988 Leprosy – lepromatous leprosy, reactional state Loiasis – adult worm seen migrating through trunk, scalp, fingers, eyelids, tongue, penis, and conjunctivae AD 108:835-836, 1973 Leprosy – lepromatous leprosy, reactional state Mycobacterium tuberculosis – tuberculosis verrucosa cutis; verrucous plaque of hand knees, ankles, buttocks; serpiginous outline with finger-like projections Clin Exp Dermatol 13:211-220, 1988; lupus vulgaris; starts as red-brown plaque, enlarges with serpiginous margin or as discoid plaques; apple-jelly nodules; plaque form – psoriasiform, irregular scarring, serpiginous margins Int J Dermatol 26:578-581, 1987; Acta Tuberc Scand 39 (Suppl 49):1-137, 1960 Myiasis causing creeping eruption North American blastomycosis – disseminated blastomycosis Am Rev Resp Dis 120:911-938, 1979; Medicine 47:169-200, 1968 Oral hairy leukoplakia Paragonomiasis BJD 145:487-489, 2001 Portuguese man-of-war stings The Clinical Management of Itching; Parthenon; p.65, 2000; J Emerg Med 10:71-77, 1992 Rheumatic fever – erythema marginatum – polycyclic pattern Rook p.2090, 1998, Sixth Edition; JAAD 8:724-728, 1983; Ann Intern Med 11:2223-2272, 1937-1938 Scabies – burrow; periaxillary, periareolar, abdomen, periumbilical, buttocks, thighs The Clinical Management of Itching; Parthenon; p.57, 2000; Rook p.1460-1461, 1998, Sixth Edition Smallpox vaccination – with lymphangitis Clin Inf Dis 37:241-250, 2003; progressive vaccinia (vaccinia necrosum) Clin Inf Dis 37:251-271, 2003 Sparganosis BJD 145:487-489, 2001 Streptococcal ulcers of the legs – serpiginous margins AD 104:271-280, 1971 Strongyloidiasis – larva currens AD 124:1826-1830, 1988 Syphilis – secondary, late nodular, noduloulcerative lesions; tertiary JAAD 24:832-835, 1991; AD 123:1707-1712, 1987 Tinea corporis treated with topical corticosteroids; generalized dermatophytosis; dermatophyte immune restoration inflammatory syndrome (IRIS) Clin Inf Dis 40:113, 182-183, 2005 Tinea faciei – treated with topical fluorinated corticosteroids Tinea imbricata Tinea versicolor Trypanosomiasis Wart Yaws – serpiginous ulcers Clin Dermatol 18:687-700, 2000

Amyloidosis, primary systemic JAAD 15:379-382, 1986; presenting as dilated veins Am J Med 109:174-175, 2000

Erythema multiforme Hidradenitis suppurativa Interstitial granulomatous dermatitis with plaques (aka linear rheumatoid nodule, railway track dermatitis, linear granuloma annulare) – red, linear plaques with arthritis JAAD 46:892-899, 2002 Pyostomatitis vegetans – oral serpiginous lesions JAAD 46:107-110, 2002 Sarcoidosis Rook p.2691, 1998, Sixth Edition Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) Tyring p.203, 2002

Diabetes mellitus – migratory ichthyosiform dermatosis with type 2 diabetes mellitus and insulin resistance; polycyclic ichthyosiform rash AD 135:1237-1242, 1999 Hereditary LDH M-subunit deficiency – acroerythema JAAD 27:262-263, 1992; JAAD 24:339-342, 1991 Liver disease, chronic – telangiectasias Necrobiosis lipoidica diabeticorum Int J Derm 33:605-617, 1994; JAAD 18:530-537, 1988 Pseudoglucagonoma syndrome with alcoholic liver disease AD 138:405-410, 2002; with chronic liver disease, chronic pancreatitis, traumatic necrotizing pancreatitis, celiac disease, jejunal adenocarcinoma AD 115:1429-1432, 1979 Scurvy – coiled hairs JAAD 41:895-906, 1999; JAAD 29:447-461, 1993; NEJM 314:892-902, 1986 Xanthomas – Type II hypercholesterolemia

Atrial myxoma, serpiginous lesions of distal finger pads Cutis 62:275-280, 1998; Arthr Rheum 23:240-243, 1980 Cutaneous horn Disseminated superficial actinic porokeratosis Epidermal nevi – S-shaped in lines of Blaschko Rook p.524, 1998, Sixth Edition Ganglion cyst of foot JAAD 47:S266-267, 2002 Keloid Giant keratoacanthoma – serpiginous polycycylic border Lymphoma – cutaneous T-cell lymphoma Rook p.2376-2378, 1998, Sixth Edition; anaplastic large cell lymphoma Cutis 60:211-214, 1997 Metastatic cancer Porokeratosis – of Mibelli Cutis 72:391-393, 2003; treated with topical corticosteroid AD 136:1568-1569, 2000 Woolly hair nevus – isolated woolly hair nevus, associated with epidermal nevus, keratosis pilaris atrophicans facei XVI Congressus Internat Dermatol, Tokyo, 1982; associated with Noonan’s syndrome BJD 100:409-416, 1979; associated with cardiofaciocutaneous syndrome JAAD 28:815-829, 1993

Erythema gyratum repens – seen with malignancy, benign breast hypertrophy, pulmonary tuberculosis, CREST syndrome, bullous pemphigoid, ichthyosis, palmoplantar hyperkeratosis, and pityriasis rubra pilaris JAAD 37:811-815, 1997 Glucagonoma syndrome (necrolytic migratory erythema) JAAD 21:1-30, 1989

Lymphoma – serpiginous, reticulated plaques due to cutaneous granulomas associated with systemic lymphoma JAAD 51:600-605, 2004 Necrobiotic xanthogranuloma with paraproteinemia Rook p.2330, 1998, Sixth Edition

Actinic granuloma Annular elastolytic granuloma JAAD 26:359-363, 1992 Cutis rhomboidalis nuchae Phytophotodermatitis from a plant (Cneoridium dumosum) Cutis 54:400-402, 1994

Acquired progressive kinking of hair AD 125:252-255, 1989; AD 121:1031-1037, 1985 Annular epidermolytic ichthyosis JAAD 27:348-355, 1992 Elastosis perforans serpiginosa JAAD 51:1-21, 2004; Hautarzt 43:640-644, 1992; AD 97:381-393, 1968; folliculitis J Derm 20:329-340, 1993 Eosinophilic pustular folliculitis of Ofuji – circinate and serpiginous plaques with overlying papules and pustules in seborrheic areas; pustules are follicular J Dermatol 16:388-391, 1989; Acta DV 50:195-203, 1970 Epidermolysis bullosa pruriginosa – domnant dystrophic or recessive dystrophic; mild acral blistering at birth or early childhood; violaceous papular and nodular lesions in linear array on shins, forearms, trunk; lichenified hypertrophic and verrucous plaques in adults BJD 146:267-274, 2002; BJD 130:617-625, 1994 Erythema annulare centrifugum Erythema cracquele (asteatotic dermatitis) Rook p.644-645, 1998, Sixth Edition Erythema dyschromicum perstans Erythema elevatum diutinum – gyrate, serpiginous, annular lesions Rook p.2194, 1998, Sixth Edition; BJD 67:121-145, 1955 Erythema gyratum repens – benign breast hypertrophy, bullous pemphigoid, CREST syndrome, ichthyosis, internal malignancy, palmoplantar hyperkeratosis, pityriasis rubra pilaris, pulmonary tuberculosis Ghatan p.133, 2002, Second Edition Erythrokeratoderma hiemalis (erythrokeratolysis hiemalis (Oudtshoorn disease)) – palmoplantar erythema, cyclical and centrifugal peeling of affected sites, targetoid lesions of the hands and feet; annular serpiginous lesions of lower legs, knees, thighs, upper arms, shoulders – seen in South African whites; precipitated by cold weather or fever BJD 98:491-495, 1978 Erythrokeratoderma variabilis BJD 152:1143-1148, 2005; Ped Derm 19:510-512, 2002; AD 124:1271-1276, 1988; with erythema gyratum repens-like lesions Ped Derm 19:285-292, 2002 Erythrokeratolysis – peeling skin syndrome Geographic tongue Granuloma annulare Ghatan p.44, 2002, Second Edition Linear and whorled nevoid hypermelanosis Necrolytic acral erythema – serpiginous, verrucous plaques of dorsal aspects of hands, legs; associated with hepatitis C infection JAAD 50:S121-124, 2004 Onychogryphosis Cutis 68:233-235, 2001 Parakeratosis variegata Progressive symmetric erythrokeratoderma JAAD 34:858-859, 1996

Psoriasis, including erythema gyratum repens-like psoriasis Int J Derm 39:695-697, 2000; erythema gyratum repens in patient with psoriasis treated with acetretin J Drugs Dermatol 3:314-316, 2003; palatal psoriasis J Can Dent Assoc 66:80-82, 2000 Resolving pityriasis rubra pilaris resembling erythema gyratum repens AD 129:917-918, 1993 Ridgeback anomaly of scalp hair AD 125:98-102, 1989 Seborrheic dermatitis Striae Subcorneal pustular dermatosis of Sneddon-Wilkinson – pustules which expand to annular and serpiginous lesions with scaly edge; heal with hyperpigmentation Ped Derm 20:57-59, 2003; BJD 145:852-854, 2001; J Dermatol 27:669-672, 2000; Cutis 61:203-208, 1998; JAAD 19:854-858, 1988; BJD 68:385-394, 1956 Terra firme Vitiligo – serpiginous papulosquamous variant of inflammatory vitiligo Dermatology 200:270-274, 2000; overlying varicose veins

Ankyloblepharon-nail dysplasia syndrome – curly hair Birth Defects Original Article Ser 7:100-102, 1971 Antiphospholipid antibody syndrome – unmasked by sclerotherapy with extensive thrombosis of treated superficial veins BJD 146:527-528, 2002 Ataxia telangiectasia Carney complex – non-blanching annular and serpiginous macules of digital pads JAAD 46:161-183, 2002 Hereditary angioneurotic edema Sybert’s Genetic Skin Disorders Hypomelanosis of Ito Incontinentia pigmenti Keratosis-ichthyosis-deafness (KID) syndrome – reticulated severe diffuse hyperkeratosis of palms and soles, well marginated, serpiginous erythematous verrucous plaques, perioral furrows, leukoplakia, sensory deafness, photophobia with vascularizing keratitis, blindness AD 117:285-289, 1981 Netherton’s syndrome – ichthyosis linearis circumflexa AD 136:875-880, 2000; Ped Derm 13:183-199, 1996 Pseudoxanthoma elasticum – elastosis perforans serpiginosa with PXE Reiter’s syndrome Treacher Collins syndrome with reactive perforating collagenosis JAAD 36:982-983, 1997 Tricho-odonto osseous syndrome – curly hair Am J Med Genet 72:197-204, 1997 Tumor necrosis factor (TNF) receptor 1-associated periodic fever syndromes (TRAPS) (same as familial Hibernian fever and familial periodic fever) – serpiginous tender red plaques, fever, polycyclic, reticulated, and migratory patches and plaques, conjunctivitis, periorbital edema, myalgia, abdominal pain, headache; Irish and Scottish predominance Pre-AAD Pediatric Dermatology Meeting, March 2000 Uncombable hair syndrome (spun glass hair syndrome) Winchester syndrome – annular and serpiginous thickenings of skin; arthropathy, gargoyle-like face, gingival hypertrophy, macroglossia, osteolysis (multilayered symmetric restrictive banding), generalized hypertrichosis, very short stature, thickening and stiffness of skin with annular and serpiginous thickenings of skin, multiple subcutaneous nodules JAAD 50:S53-56, 2004 Woolly hair, alopecia, premature loss of teeth, nail dystrophy, reticulate acral hyperkeratosis, facial abnormalities BJD 145:157-161, 2001

Babinski sign, cutaneous Cauliflower ears Heel sticks – scarring Textbook of Neonatal Dermatology, p.112, 2001 Lightning injury Radiation dermatitis

Angioma serpiginosum – red or purple punctae within background of erythema; serpiginous pattern Rook p.2092-2093, 1998, Sixth Edition; JAAD 37:887-920, 1997; AD 92:613-620, 1965 Arteriovenous fistulae – congenital or acquired; red pulsating nodules with overlying telangiectasia and distal serpiginous varicosities of an extremity or trunk Rook p.2238, 1998, Sixth Edition Atrophie blanche Blue rubber bleb nevus AD 129:1505-1510, 1993 Caput medusae – portal obstruction Rook p.2724, 1998, Sixth Edition Emboli – from cardiac myxomas; violaceous annular and serpiginous lesions BJD 147:379-382, 2002 Lipodermatosclerosis with ankle flare – serpiginous vascular accentuation along the lower ankle and lateral foot Rook p.2252, 1998, Sixth Edition Lymphedema of abdomen in pregnancy JAAD 12:930-932, 1985 Lymphangiectasias Mondor’s disease – periphlebitis of the chest wall Non-venereal sclerosing lymphangitis of penis Urology 127:987-988, 1982; BJD 104:607-695, 1981 Sunburst varicosities and telangiectasia J Derm Surg Oncol 15:184-190, 1989 Superficial thrombophlebitis Superior vena cava syndrome Telangiectasia Urticarial vasculitis, including urticarial vasculitis associated with mixed cryoglobulins, hepatitis B or C infection, IgA multiple myeloma, infectious mononucleosis, monoclonal IgM gammopathy (Schnitzler’s syndrome), fluoxetine ingestion, metastatic testicular teratoma, serum sickness, Sjögren’s syndrome, systemic lupus erythematous Rook p.2127, 1998, Sixth Edition; JAAD 38:899-905, 1998; Medicine 74:24-41, 1995; JAAD 26:441-448, 1992 Varicosities Rook p.2250, 1998, Sixth Edition; Br Med J 300:763-764, 1990 Vasculitis – leukocytoclastic vasculitis presenting as gyrate erythema JAAD 47:S254-256, 2002 Venous stasis

Aarskog syndrome (facio-digito-genital syndrome) – X-linked recessive – anteverted nostrils, long philtrum, broad nasal bridge; short broad hands with syndactyly, scrotal shawl (scrotal fold which surrounds the base of the penis); skeletal defects; learning disabilities Am J Med Genet 46:501-509, 1993; Am J Ophthalmol 109:450-456, 1990; Am J Med Genet 15:39-46, 1983; Hum Genet 42:129-135, 1978; J Pediatr 77:856-861, 1970

Abruzzo-Erickson syndrome (cleft palate, eye cloboma, short stature, hypospadias) J Med Genet 14:76-80, 1977 Achondroplasia Syndromes of the Head and Neck p.171-175, 1990 Acraniofacial dysostosis Am J Med Genet 29:95-106, 1988 Acrogeria (Gottron’s syndrome) – micrognathia, atrophy of tip of nose, atrophic skin of distal extremities with telangiectasia, easy bruising, mottled pigmentation or poikiloderma of extremities, dystrophic nails BJD 103:213-223, 1980 Acromesomelic dysplasia Birth Defects 10:137-146, 1974 Acro-osteolysis (Hajdu-Cheney syndrome) J Periodontol 55:224-229, 1984 Adenine deaminase deficiency – autosomal recessive; disproportionate short stature; short limb skeletal dysplasia type 1 (bowed femurs) Am J Med Genet 66:378-398, 1996 Aganglionic megacolon and cleft lip/palate J Craniofac Genet Dev Biol 1:185-189, 1981 Albright’s hereditary osteodystrophy (pseudohypoparathyroidism) Ergeb Inn Med Kinderheilkd 42:191-221, 1979 Ataxia telangiectasia Rook p.2095,1998, Sixth Edition; Ann Intern Med 99:367-379, 1983 Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly, and short stature Clin Genet 41:57-61, 1992 Braegger syndrome – proportionate short stature, IUGR, ischiadic hypoplasia, renal dysfunction, craniofacial anomalies, postaxial polydactyly, hypospadias, microcephaly, mental retardation Am J Med Genet 66:378-398, 1996 Bloom’s syndrome (congenital telangiectatic erythema and stunted growth) – autosomal recessive; blisters of nose and cheeks; slender face, prominent nose; facial telangiectatic erythema with involvement of eyelids, ear, hand and forearms; bulbar conjunctival telangiectasias; stunted growth; CALMs, clinodactyly, syndactyly, congenital heart disease, annular pancreas, high-pitched voice, testicular atrophy; no neurologic deficits Ped Derm 22:147-150, 2005; Curr Prob Derm 14:41-70, 2002; Ped Derm 14:120-124, 1997; JAAD 17:479-488, 1987; AD 114:755-760, 1978; Clin Genet 12:85-96, 1977; Am J Hum Genet 21:196-227, 1969; Am J Dis Child 116:409-413, 1968; AD 94:687-694, 1966; Am J Dis Child 88:754-758, 1954 Cardio-facio-cutaneous syndrome (Noonan-like short stature syndrome) (NS) – xerosis/ichthyosis, eczematous dermatitis, growth failure, hyperkeratotic papules, ulerythema ophryogenes, seborrheic dermatitis, CALMs, nevi, keratosis pilaris, autosomal dominant, patchy or widespread ichthyosiform eruption, sparse curly short scalp hair and eyebrows and lashes, hemangiomas, acanthosis nigricans, congenital lymphedema of the hands, redundant skin of the hands, short stature, abnormal facies, cardiac defects JAAD 46:161-183, 2002; Ped Derm 17:231-234, 2000; JAAD 28:815-819, 1993; AD 129:46-47, 1993; JAAD 22:920-922, 1990; port wine stain Clin Genet 42:206-209, 1992 Cartilage-hair hypoplasia (metaphyseal chondrodysplasia of McKusick) (disproportionate short stature; short limb skeletal dysplasia) – dwarfism, mild leg bowing, short sparse, lightly colored hair; some with total baldness, immune defects Eur J Pediatr 155:286-290, 1996; Eur J Pediatr 142:211-217, 1993; Am J Med Genet 41:371-380, 1991; Bull Johns Hopkins Hosp 116:285-326, 1965 CINCA syndrome (chronic infantile, neurological, cutaneous, and articular syndrome) Scand J Rheumatol Suppl 66:57-68, 1987 Cleft lip/palate, posterior keratoconus, short stature, mental retardation, genitourinary anomalies J Med Genet 19:332-336, 1982

Cleft lip/palate and pituitary dysfunction Syndromes of the Head and Neck p.781, 1990 Cleft palate, macular coloboma, short stature, skeletal abnormalities Br J Ophthalmol 53:346-349, 1969 Cleft palate, microcephaly, large ears, short stature (Say syndrome) Humangenetik 26:267-269, 1975 Cleft palate and sensorineural hearing loss Helv Paediatr Acta 38:267-280, 1983 Cleidocranial dysplasia Syndromes of the Head and Neck p.249-253, 1990 Cockayne syndrome – xerosis with rough, dry skin, anhidrosis, erythema of hands, hypogonadism; autosomal recessive; short stature, facial erythema in butterfly distribution leading to mottled pigmentation and atrophic scars, premature aged appearance with loss of subcutaneous fat and sunken eyes, canities, mental deficiency, photosensitivity, disproportionately large hands, feet, and ears, ocular defects, demyelination Ped Derm 20:538-540, 2003; Am J Hum Genet 50:677-689, 1992; J Med Genet 18:288-293, 1981; birdheaded dwarfism Rook p.3261, 1998, Sixth Edition Coffin-Lowry syndrome – X-linked inheritance; straight coarse hair, prominent forehead, prominent supraorbital ridges, hypertelorism, large nose with broad base, thick lips with mouth held open, large hands, tapering fingers, severe mental retardation; loose skin easily stretched, cutis marmorata, dependent acrocyanosis, varicose veins Clin Genet 34:230-245, 1988; Am J Dis Child 112:205-213, 1966 Congenital erythropoietic porphyria Ped Derm 20:498-501, 2003 Conradi-Hunermann syndrome – X-linked dominant ichthyosis (Happle’s syndrome) – chondrodysplasia punctata, ichthyosis, cataract syndrome; collodion baby or ichthyosiform erythroderma; Blaschko pattern of erythroderma and scaling; plantar hyperkeratosis; resolves with time to reveal swirls of fine scale, linear hyperpigmentation, follicular atrophoderma of arms and legs, cicatricial alopecia; mutation in gene encoding 8-7 sterol isomerase; collodion baby or generalized ichthyosiform erythroderma; Blaschko erythroderma and scaling; palmoplantar keratoderma; follicular atrophoderma and cicatricial alopecia in adults; short stature; asymmetric shortening of limbs; chondrodysplasia punctata, cataracts Eur J Dermatol 10:425-428, 2000; Hum Genet 53:65-73, 1979; skeletal defects with short stature severe autosomal rhizomelic type; X-linked recessive variant Rook p.1520, 1998, Sixth Edition; chondrodysplasia punctata, X-linked recessive – with ichthyosis Ped Derm 18:442-444, 2001; rhizomelic form Syndromes of the Head and Neck p.190-191, 1990 Cornelia de Lange syndrome – cutis marmorata, short stature, specific facies, hypertrichosis of forehead, face, back, shoulders, and extremities, synophrys; long delicate eyelashes, skin around eyes and nose with bluish tinge Rook p.428, 1998, Sixth Edition; JAAD 37:295-297, 1997 Cross syndrome – autosomal recessive; gingival fibromatosis, microphthalmia with cloudy corneas, mental retardation, spasticity, growth retardation, athetosis, hypopigmentation, silvery gray hair Ped Derm 18:534-536, 2001; J Pediatr 70:398-406, 1967 Cutis laxa Syndromes of the Head and Neck p.424, 1990 DeBarsey syndrome – cutis laxa with psychomotor retardation, corneal clouding, growth retardation Eur J Pediatr 144:348-354, 1985 DeSanctis-Cacchione syndrome – dwarfism, gonadal hypoplasia, mental deficiency, microcephaly, xeroderma pigmentosum Ghanan p.199, 2002, Second Edition

Diastrophic dysplasia – cystic ear during hemorrhagic phase; calcifies J Bone Jt Surg 50A:113-118, 1968 Distal aphalangia, syndactyly, extra metatarsal, short stature, microcephaly, borderline intelligence – autosomal dominant Am J Med Genet 55:213-216, 1995 DNA ligase I deficiency – short stature, photosensitivity Am J Med Genet 66:378-398, 1996 Down’s syndrome – short stature, cutis marmorata, acrocyanosis, low-set, small ears JAAD 46:161-183, 2002; Rook p.3015-3016, 1998, Sixth Edition Dubowitz syndrome – autosomal recessive, erythema and scaling of face and extremities in infancy, sparse blond scalp and eyebrow hair, high pitched hoarse voice, delayed eruption of teeth, growth retardation, craniofacial abnormalities; developmental delay, transitory short stature, hyperactive behavior, blepharophimosis, ptosis of the eyelids, micrognathia, sparse scalp and eyebrow hair, and atopic dermatitis Am J Med Genet 63:277-289, 1996; Eur J Pediatr 144:574-578, 1986; Am J Med Genet 4:345-347, 1979 Dwarfism-alopecia-pseudoanodontia-cutis laxa; autosomal recessive; generalized atrichia, unerupted teeth, hyperconvex nails, cutis laxa with fragile skin, dwarfism, deafness, eye anomalies Cien Cult 34 (Suppl):705, 1982 Dwarfism, bilateral club feet, premature aging, progressive panhypogammaglobulinemia J Rheumatol 21:961-963, 1994 Dyggve-Melchior-Clausen syndrome – short trunk dwarfism and mental retardation Clin Genet 14:24-30, 1978 Dysosteosclerosis – oligodontia Birth Defects 11:349-351, 1975 Ehlers-Danlos syndrome type VII (arthrochalasis multiplex congenita) J Med Genet 24:698-701, 1987; J Bone Jt Surg 40:663, 1958; type IV Rook p.2035, 1998, Sixth Edition Ellis-van Creveld syndrome (chondroplastic dwarf with defective teeth and nails, and polydactyly) – autosomal recessive; chondrodysplasia, polydactyly, peg-shaped teeth or hypodontia, short upper lip bound down by multiple frenulae; nail dystrophy, hair may be normal or sparse and brittle; cardiac defects; ichthyosis, palmoplantar keratoderma Ped Derm 18:485-489, 2001; J Med Genet 17:349-356, 1980; Arch Dis Child 15:65-84, 1940 Familial eosinophilic cellulitis, short stature, dysmorphic habitus, and mental retardation – bullae, vesicles, and red plaques JAAD 38:919-928, 1998 Femoral hypoplasia-unusual facies syndrome J Pediatr 86:107-111, 1975 Fetal alcohol syndrome – short stature, angiomas, hypertrichosis JAAD 46:161-183, 2002 Fetal hydantoin syndrome – short stature, hypertrichosis, hypoplastic distal phalanges JAAD 46:161-183, 2002 Filippi syndrome – short stature, microcephaly, characteristic face, syndactyly, mental retardation Genet Couns 4:147-151, 1993 Fleisher syndrome – X-linked, proportionate short stature, hypogammaglobulinemia, isolated growth hormone deficiency Am J Med Genet 66:378-398, 1996 Frydman syndrome – autosomal recessive; prognathism, syndactyly, short stature, blepharophimosis, weakness of extraocular and frontal muscles, synophrys Clin Genet 41:57-61, 1992 GAPO syndrome – growth retardation, alopecia, pseudoanodontia, progressive optic atrophy J Craniofac Genet Dev Biol 19:189-200, 1999; Am J Med Genet 19:209-216, 1984 Geleophysic dysplasia Am J Med Genet 19:483-486, 1984 Gerodermia osteodysplastica (Bamatter syndrome) J Genet Hum 17:137-178, 1969

Gingival fibromatosis, hypertrichosis, cherubism, mental and somatic retardation, and epilepsy (Ramon syndrome) Am J Med Genet 25:433-442, 1986 Hajdu-Cheney syndrome (acroosteolysis) – dissolution of the terminal phalanges, abnormally shaped skull, premature loss of teeth, short stature; thick scalp and eyebrow hair with synophrys; hypertrichosis and hyperelastic skin Int J Oral Surg 14:113-125, 1985; J Periodontol 55:224-229, 1984; Am J Med 65:627-636, 1978; J Pediatr 88:243-249, 1976 Hallermann-Streiff syndrome – partial anodontia, short stature, atrophy and telangiectasia of central face, parrot-like appearance, microphthalmia, cataracts, high-arched palate, small mouth, sutural alopecia JAAD 50:644, 2004; Birth Defects 18:595-619, 1982 Hunter’s syndrome – reticulated 2-10-mm skin-colored papules over scapulae, chest, neck, arms; X-linked recessive; MPS type II; iduronate-2 sulfatase deficiency; lysosomal accumulation of heparin sulfate and dermatan sulfate; short stature, full lips, coarse facies, macroglossia, clear corneas (unlike Hurler’s syndrome), progressive neurodegeneration, communicating hydrocephalus, valvular and ischemic heart disease, lower respiratory tract infections, adenotonsillar hypertrophy, otitis media, obstructive sleep apnea, diarrhea, hepatosplenomegaly, skeletal deformities (dysostosis multiplex), widely spaced teeth, dolichocephaly, deafness, retinal degeneration, inguinal and umbilical hernias Ped Derm 21:679-681, 2004; macrocephaly Ghatan p.199, 2002, Second Edition Hurst syndrome – short stature, hypertonia, unusual facies, mental retardation, hemolytic anemia, delayed puberty Am J Med Genet 29:107-115, 1988; Am J Med Genet 28:965-970, 1987 Hutchinson-Gilford syndrome (progeria) – loss of subcutaneous tissue, hyper-and hypomelanosis, alopecia, mid-facial cyanosis around mouth and nasolabial folds, decreased sweating, sclerodermoid changes, cobblestoning of soft pebbly nodules Am J Med Genet 82:242-248, 1999; Rook p.3261, 1998, Sixth Edition Hydrocephalus J Pediatr Endocrinol Metab 9:181-187, 1996 Hyper-IgE syndrome – papular, pustular, excoriated dermatitis of scalp, buttocks, neck, axillae, groin; furunculosis; growth failure Clin Exp Dermatol 11:403-408, 1986; Medicine 62:195-208, 1983 Hypertelorism-microtia-clefting syndrome (Bixler syndrome) J Med Genet 387-388, 1982 Hypochondroplasia J Bone Jt Surg 51A:728-736, 1969 Ichthyosis – rarely severe in infants due to failure to thrive Ichthyosis Focus 23:1,4, 2004 Johanson-Blizzard syndrome – aplasia cutis congenita of the scalp, sparse hair, deafness, absence of permanent tooth buds, hypoplastic ala nasi, dwarfism, microcephaly, mental retardation, hypotonia, pancreatic insufficiency with malabsorption, hypothyroidism, genital and rectal anomalies Clin Genet 14:247-250, 1978; J Pediatr 79:982-987, 1971 Juvenile hyaline fibromatosis (infantile systemic hyalinosis) – nodular perianal lesions, ears, lips, gingival hypertrophy, hyperpigmentation, flexion contractures of joints, osteolytic defects, stunted growth Dermatology 190:148-151, 1995; Ped Derm 11:52-60, 1994 Kabuki makeup syndrome – short stature, distinct face (long palpebral fissures, eversion of the lower eyelids, sparse arched lateral eyebrows, prominent malformed ears), cutis laxa, hyperextensible joints, syndactyly, fetal finger pads with abnormal dermatoglyphics, mental retardation JAAD S247-251, 2005; Am J Med Genet 94:170-173, 2000; Am J Med Genet 31:565-589, 1988; J Pediatr 105:849-850, 1984; J Pediatr 99:565-569, 1981

Kenny syndrome (tubular stenosis) Clin Pediatr 28:175-179, 1989 Kniest dysplasia (metatropic dysplasia) Am J Med Genet 6:171-178, 1980 Langerhans cell histiocytosis – growth hormone deficiency due to hypothalamic involvement Rook p.2321, 1998, Sixth Edition; NEJM 292:332-333, 1975 Lenz microphthalmia syndrome Z Kenderheilkd 77:384-390, 1955 LEOPARD (Moynahan’s) syndrome – autosomal dominant; CALMs, granular cell myoblastomas, steatocystoma multiplex, small penis, hyperelastic skin, low-set ears, short webbed neck, short stature, syndactyly Ped Derm 20:173-175, 2003; JAAD 46:161-183, 2002; JAAD 40:877-890, 1999; J Dermatol 25:341-343, 1998; Am J Med 60:447-456, 1976; AD 107:259-261, 1973; Am J Dis Child 117:652-662, 1969 Leprechaunism – Donohue’s syndrome – decreased subcutaneous tissue and muscle mass, characteristic facies, severe intrauterine growth retardation, broad nose, low-set ears, hypertrichosis of forehead and cheeks, loose folded skin at flexures, gyrate folds of skin of hands and feet; breasts, penis, clitoris hypertrophic Ped Derm 19:267-270, 2002; Endocrinologie 26:205-209, 1988 Leri-Weill dyschondrosteosis – mesomelic short stature syndrome with Madelung’s deformity; SHOX haploinsufficiency like Turner’s syndrome JAAD 50:767-776, 2004 Macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome – macrocephaly, hypotonia, hemihypertrophy, hemangioma, cutis marmorata telangiectatica congenita, internal arteriovenous malformations, syndactyly, joint laxity, hyperelastic skin, thickened subcutaneous tissue, developmental delay, short stature, hydrocephalus Ped Derm 16:235-237, 1999 Marden-Walker syndrome – autosomal recessive; mental retardation, failure to thrive, microcephaly, immobility of facial muscles, blepharophimosis, congenital joint contractures, arachnodactyly, kyphoscoliosis, and transverse palmar creases J Child Neurol 16:150-153, 2001 Martsolf syndrome – cataracts, facial dysmorphism, microcephaly, short stature, hypogonadism Am J Med Genet 1:291-299, 1978 Mastocytosis of the skin, short stature, conductive hearing loss, and microtia Clin Genet 37:64-68, 1990 MC/MR syndrome with multiple circumferential skin creases – multiple congenital anomalies including high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals, posteriorly angulated ears, short stature, hypotonia, pectus excavatum, inguinal and umbilical hernias, scoliosis, hypoplastic scrotum, long fingers, overlapping toes, severe psychomotor retardation, resembles Michelin tire baby syndrome Am J Med Genet 62:23-25, 1996 Microcephaly-lymphedema syndrome – with short stature Am J Med Genet 280:506-509, 1998 Microphthalmia with linear skin defects (MIDAS syndrome) – Xp22.3 deletion Ped Derm 20:153-157, 2003 Monosuperocentroincisivodontic dwarfism Clin Genet 32:370-373, 1987 Moore-Federman syndrome – short stature, stiffness of joints, characteristic facies J Med Gen 26:320-325, 1989 Mucopolysaccharidoses (Hunter’s, Hurler’s, Sanfilippo syndromes) JAAD 48:161-179, 2003 Mulibrey nanism – autosomal recessive; proportionate short stature, prenatal growth deficiency, muscle weakness, abnormal

sella turcica, hepatomegaly, ocular fundi lesions Am J Med Genet 66:378-398, 1996 Multiple pterygium syndrome Am J Dis Child 142:794-798, 1988; Eur J Pediatr 147:550-552, 1988; J Med Genet 24:733-749, 1987 Neu-Laxova syndrome – variable presentation; mild scaling to harlequin ichthyosis appearance; ichythosiform scaling, increased subcutaneous fat and atrophic musculature, generalized edema and mildly edematous feet and hands, absent nails; microcephaly, intrauterine growth retardation, limb contractures, low-set ears, sloping forehead, short neck; small genitalia, eyelid and lip closures, syndactyly, cleft lip and palate, micrognathia; autosomal recessive; uniformly fatal Ped Derm 20:25-27,78-80, 2003; Curr Prob Derm 14:71-116, 2002; Clin Dysmorphol 6:323-328, 1997; Am J Med Genet 35:55-59, 1990 Oculo-palato-cerebral dwarfism Clin Genet 27:414-419, 1985 Osteodysplastic geroderma (Walt Disney dwarfism) – short stature, cutis laxa-like changes with drooping eyelids and jowls, osteoporosis and skeletal abnormalities Am J Med Genet 3:389-395, 1979 Premature aging syndrome (Mulvihill-Smith syndrome) – Mulvihill-Smith syndrome – autosomal dominant; short stature, microcephaly, unusual birdlike facies (broad forehead, small face, micrognathia) (progeroid with lack of facial subcutaneous tissue), multiple pigmented congenital melanocytic nevi, freckles, blue nevi, hypodontia, immunodeficiency with chronic infections, high pitched voice, xerosis, telangiectasias, thin skin, fine silky hair, premature aging, hypodontia, high-pitched voice, mental retardation, sensorineural hearing loss, hepatomegaly low birth weight, short stature, conjunctivitis, delayed puberty Am J Med Genet 66:378-398, 1996; J Med Genet 31:707-711, 1994; Am J Med Genet 45:597-600, 1993 Naegeli-Franceschetti-Jadassohn syndrome variant – reticulate pigmentary dermatosis with hypohidrosis and short stature Int J Dermatol 34:30-31, 1995 Nijmegen breakage syndrome – autosomal recessive; microcephaly, mental retardation, prenatal onset short stature, bird-like facies, café-au-lait macules Am J Med Genet 66:378-398, 1996 Noonan’s syndrome Cutis 67:315-316, 2001 Oculocutaneous albinism, dysmorphic features, short stature Ophthalmic Paediatr Genet 11:209-213, 1990 Oliver-McFarlane syndrome – trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of the retina JAAD 37:295-297, 1997; Can J Ophthalmol 28:191-193, 1993 Olmsted syndrome – periorificial keratotic plaques; congenital diffuse sharply marginated transgradient keratoderma of palms and soles, onychodystrophy, constriction of digits, diffuse alopecia, thin nails, chronic paronychia, leukokeratosis of oral mucosa, linear keratotic streaks, follicular keratosis, constriction of digits (ainhum), anhidrosis, small stature; differential diagnostic considerations include Clouston hidrotic ectodermal dysplasia, pachyonychia congenita, acrodermatitis enteropathica, Vohwinkel’s keratoderma, mal de Meleda, and other palmoplantar keratodermas Ped Derm 20:323-326, 2003; AD 132:797-800, 1996; JAAD 10:600-610, 1984 Omenn syndrome – disproportionate short stature, short limb skeletal dysplasia type 1; alopecia, eosinophilia, ichthyosiform skin lesions, reticuloendotheliosis, erythroderma Am J Med Genet 66:378-398, 1996 Oral-facial-digital syndrome with acromelic short stature Clin Dysmorphol 8:185-188, 1999; type VI Am J Med Genet 35:360-369, 1990 Osteoglophonic dysplasia Eur J Pediatr 147:547-549, 1988

Otopalatodigital syndrome Arch Otolaryngol 85:394-399, 1967 Panhypopituitary dwarfism – short stature, excess subcutaneous fat, high pitched voice, soft, wrinkled skin, childlike facies Birth Defects 12:15-29, 1976 Pansclerotic morphea Ped Derm 19:151-154, 2002 Polydysplastic epidermolysis bullosa Rook p.3261, 1998, Sixth Edition Premature aging syndrome with osteosarcoma, cataracts, diabetes mellitus, osteoporosis, erythroid macrocytosis, severe growth and developmental deficiency Am J Med Genet 69:169-170, 1997 Pseudoxanthoma elasticum with osteoectasia – dwarfism, radiographic changes, increased alkaline phosphatase Clin Exp Dermatol 7:605-609, 1982 Restrictive dermopathy (stiff skin syndrome) – severe intrauterine growth retardation; micrognathia, fixed facial expression, low-set ears, pinched nose, O-shaped mouth, flexion contractures, rigid, translucent, inelastic skin AD 138:831-836, 2002 Rhizomelic dwarfism – autosomal recessive; chondrodysplasia punctata with mild ichthyosis Ped Derm 18:442-444, 2001 Ring chromosome 7, 11 – CALMs microcephaly, mental retardation Am J Med Genet 30:911-916, 1988; 12, and 15 syndromes JAAD 40:877-890, 1999 Ritscher-Schinzel syndrome – autosomal recessive; Dandy Walker-like malformation, atrioventricular canal defect, short stature Am J Med Genet 66:378-398, 1996 Robert’s syndrome (hypomelia-hypotrichosis-facial hemangioma syndrome) – autosomal recessive; mid-facial port wine stain extending from forehead to nose and philtrum, cleft lip +/− cleft palate, sparse silver-blond hair, limb reduction malformation, characteristic facies, malformed ears with hypoplastic lobules, marked growth retardation Clin Genet 31:170-177, 1987; Clin Genet 5:1-16, 1974 Rombo syndrome – acral erythema, cyanotic redness, follicular atrophy (atrophoderma vermiculata), milia-like papules, telangiectasias, red ears with telangiectasia, thin eyebrows, sparse beard hair, basal cell carcinomas, short stature BJD 144:1215-1218, 2001 Rothmund-Thomson syndrome (poikiloderma congenitale) – autosomal recessive; scalp hair sparse and fine Ped Derm 18:210-212, 2001; Am J Med Genet 22:102:11-17, 2001; Ped Derm 18:210212, 2001; Ped Derm 16:59-61, 1999; Rook p.417, 1998, Sixth Edition; Dermatol Clin 13:143-150, 1995; JAAD 27:75-762, 1992; BJD 122:821-829, 1990; Ped Derm 6:325-328, 1989; Ped Derm 6:321-324, 1989; JAAD 17:332-328, 1987; JAAD 17:332-338, 1987; Arch Ophthalmol (German) 4:159, 1887 Rubenstein-Taybi syndrome – arciform keloids, hypertrichosis, long eyelashes, thick eyebrows, keratosis pilaris or ulerythema ophyrogenes, low-set ears, very short stature, broad terminal phalanges of thumbs and great toes, hemangiomas, nevus flammeus, café au lait macules, pilomatrixomas, cardiac anomalies, mental retardation Ped Derm 19:177-179, 2002; Am J Dis Child 105:588-608, 1963 Russell-Silver syndrome – intrauterine and post-natal growth retardation; triangular facies, childhood hyperhidrosis, limb asymmetry, café au lait macules, blue sclerae, achromia, 5th finger clinodactyly, genital dysmorphia SADDAN syndrome – autosomal dominant; short stature, severe tibial bowing, severe achondroplasia with profound developmental delay and acanthosis nigricans BJD 147:1096-1011, 2002; Am J Med Genet 85:53-65, 1999 Satoyoshi syndrome – alopecia areata with progressive painful intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea (hypothalamic dysfunction),

very short stature, flexion contractures, skeletal abnormalities Ped Derm 18:406-410, 2001; AD 135:91-92, 1999 Say-Barber syndrome – short stature, microcephaly, large ears, flexion contractures, decreased subcutaneous fat; dermatitis in infancy with transient hypogammaglobulinemia Am J Med Genet 86:165-167, 1999; Am J Med Genet 45:358-360, 1993 Schimke immunoosseous dysplasia – disproportionate short stature, spondyloepiphyseal dysplasia, progressive nephropathy, episodic lymphopenia, pigmentary skin changes Am J Med Genet 66:378-398, 1996 Schwachman syndrome – disproportionate short stature, metaphyseal dysplasia, exocrine pancreatic insufficiency, cyclic neutropenia Am J Med Genet 66:378-398, 1996 Schwartz-Jampel syndrome (chondrodystrophic myotonia) Am J Med Genet 66:378-398, 1996; J Neurol Neurosurg Psychiat 41:161-169, 1978 Seckel’s syndrome – autosomal recessive; hair sparse and prematurely gray, growth retardation, beak-like nose, large eyes, skeletal defects Am J Med Genet 12:7-21, 1982 SHORT syndrome – short stature, joint hyperextensibility, ocular depression (deep-set eyes), Rieger anomaly, teething delay; lipoatrophy of face Clin Dysmorphol 8:219-221, 1999; Birth Am J Med Genet 61:178-181, 1996; J Med Genet 26:473-475, 1989; Defects 11:46-48, 1975 Short limb skeletal dysplasia type 3 (disproportionate short stature) – metaphyseal dysplasia, exocrine pancreatic insufficiency, cyclic neutropenia Am J Med Genet 66:378-398, 1996 Short stature, alopecia, and macular degeneration Rook p.3261, 1998, Sixth Edition Short stature, characteristic facies, mental retardation, skeletal anomalies, and macrodontia Clin Genet 26:69-72, 1984 Short stature and delayed dental eruption Oral Surg 41:235-243, 1976 Short stature and macrocephaly, mental retardation Am J Med Genet 21:697-705, 1985 Short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes, congenital heart disease – xerosis, dermatitis, low-set ears, umbilical hernia Clin Dysmorphol 5:321-327, 1996 Short stature, mental retardation, ocular abnormalities Helv Paediat Acta 27:463-469, 1972 Short stature, oligodontia Syndromes of the Head and Neck p.873, 1990 Short stature and osteopetrosis Radiology 164:23-224, 1987 Short stature, premature aging, pigmented nevi J Med Genet 25:53-56, 1988 Short stature, sensorineural hearing loss, low nasal bridge, cleft palate Am J Med Genet 21:317-324, 1985 Short stature and short thin dilacerated dental roots Oral Surg 54:553-559, 1982 Short stature and solitary maxillary central incisor J Pediatr 91:924-928, 1977 Smith-Fineman-Myers syndrome (unusual facies, short stature, and mental deficiency) Am J Med Genet 22:301-304, 1985 Stanescu osteosclerosis syndrome – short stature, brachycephaly, hypoplastic midface, ocular proptosis, micrognathia, brachydactyly, dense cortices of long bones J Genet Hum 29:129-139, 1981 Stickler syndrome (hereditary arthroophthalmopathy) – autosomal dominant; flat midface, cleft palate, myopia with retinal detachment, cataracts, hearing loss, arthropathy J Med Genet 36:353, 359, 1999; Birth Defects 11:77-103, 1975

Tay syndrome – autosomal recessive, growth retardation, triangular face, cirrhosis, trident hands, premature canities, vitiligo Bolognia p.859, 2003 Thanatophoric dysplasia – autosomal dominant; micromelic dwarfism; defect in FGFR3 BJD 147:1096-1011, 2002 3-M syndrome Birth Defects 11:39-47, 1975 Tonoki syndrome – short stature, brachydactyly, nail dysplasia, mental retardation Am J Med Genet 80:403-405, 1998 Toriello syndrome – autosomal recessive; proportionate short stature, prenatal growth deficiency, delayed skeletal maturation, cataracts, enamel hypoplasia, neutropenia, microcephaly, mental retardation Am J Med Genet 66:378-398, 1996 Trichothiodystrophy syndromes (Tay syndrome) – BIDS, IBIDS, PIBIDS – poikiloderma, sparse or absent eyelashes and eyebrows, brittle hair, premature aging, sexual immaturity, ichthyosis, dysmyelination, bird-like facies, dental caries; trichothiodystrophy with ichthyosis, urologic malformations, hypercalciuria and mental and physical retardation JAAD 44:891-920, 2001; Ped Derm14:441-445, 1997; Eur J Pediatr 141:147-152, 1984; trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction Am J Med Genet 35:566-573, 1990; with XP group D mutation JAAD 16:940-947, 1987 Tuomaala-Haapanen syndrome (brachymetapody, anodontia, hypotrichosis, albinoid trait) Acta Ophthalmol 46:365-371, 1968 Vertebral and eye anomalies, cutis aplasia, and short stature (VECS) Am J Med Genet 77:225-227, 1998 Watson’s syndrome – café au lait macules, axillary and perianal freckling, pulmonic stenosis, low intelligence, short stature JAAD 46:161-183, 2002; JAAD 40:877-890, 1999 Werner’s syndrome – Leuk Lymphoma 21:509-513, 1996 Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) – autosomal recessive; aged facies at birth, frontal and biparietal bossing, scalp with sparse hair and prominent veins, retarded psychomotor development; death by age five Eur J Pediatr 136:245-248, 1981 Winchester syndrome (hereditary contractures with sclerodermatoid changes of skin) – scleredema-like skin changes, joint contractures, gingival hyperplasia, dwarfism, arthritis of small joints, corneal opacities JAAD 50:S53-56, 2004; Am J Med Genet 26:123-131, 1987; J Pediatr 84:701-709, 1974; Pediatrics 47:360-369, 1971 X-aneuploidy variants Syndromes of the Head and Neck, p.58, 1990 49,XXXXX syndrome Syndromes of the Head and Neck, p.63, 1990 49,XXXXY syndrome Syndromes of the Head and Neck, p.59, 1990

Aagenaes syndrome (hereditary cholestasis with lymphedema) – autosomal recessive; lymphedema of legs due to congenital lymphatic hypoplasia; pruritus, growth retardation Textbook of Neonatal Dermatology, p.334, 2001 Acrodermatitis enteropathica or acquired zinc deficiency – stunted growth in infant with vesiculobullous dermatitis of hands, feet, periorificial areas Ped Derm 19:426-431, 2002; AD 116:562-564, 1980; Acta DV (Stockh) 17:513-546, 1936 Alagille syndrome – xanthomas of palmar creases, extensor fingers, nape of neck; growth retardation, delayed puberty Ped Derm 22:11-14, 2005 Atopic dermatitis

Barber-Say syndrome – autosomal dominant, X-linked JAAD 48:161-179, 2003 Begeer syndrome – cataracts, deafness, short stature, ataxia, polyneuropathy Clin Dysmorphol 4:283-288, 1995 Berlin syndrome – no vellus hairs; mottled pigmentation and leukoderma, flat saddle nose, thick lips, fine wrinkling around the eyes and mouth (similar to Christ-Siemens ectodermal dysplasia); stunted growth, bird-like legs, mental retardation Dermatologica 123:227-243, 1961 Borrone dermatocardioskeletal syndrome – autosomal recessive or X-linked; gingival hypertrophy, coarse facies, late eruption of teeth, loss of teeth, thick skin, acne conglobata, osteolysis, large joint flexion contractures, short stature, brachydactyly, camptodactyly, mitral valve prolapse, congestive heart failure Ped Derm 18:534-536, 2001 Buschke-Ollendorf syndrome – with or without precocious puberty Ped Derm 11:31-34, 1994; AD 106:208-214, 1972 Cardio-facio-cutaneous syndrome – xerosis/ichthyosis, eczematous dermatitis, alopecia, growth failure (short stature), hyperkeratotic papules, ulerythema ophryogenes, seborrheic dermatitis, CALMs, nevi, keratosis pilaris Ped Derm 17:231-234, 2000; JAAD 28:815-819, 1993; AD 129:46-47, 1993; Eur J Pediatr 150:486-488, 1991; JAAD 22:920-922, 1990 CHARGE syndrome – short stature, coloboma of the eye, heart anomalies, choanal atresia, somatic and mental retardation, genitourinary abnormalities, ear anomalies, primary lymphedema Ped Derm 20:247-248, 2003 Chronic granulomatous disease – short stature, low weight Ped Derm 21:646-651, 2004 Chronic infantile neurological cutaneous articular syndrome (CINCA) (Neonatal onset multisystem inflammatory disorder (NOMID)) – urticarial rash at birth, arthropathy, uveitis, mental retardation, short stature AD 136:431-433, 2000; Eur J Ped 156:624-626, 1997; J Pediatr 99:79-83, 1981 Congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis, gingival hyperplasia, short stature Clin Dysmorphol 4:283-288, 1995 Congenital ichythyosis, hypogonadism, small stature, facial dysmorphism, scoliosis, and myogenic dystrophy Ann Genet 42:45-50, 1999 Congenital ichthyosis, retinitis pigmentosa, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, abnormal electroencephalogram Ophthalmic Genet 19:69-79, 1998 Corneodermatoosseous syndrome – autosomal dominant; premature birth; diffuse PPK; photophobia, corneal dystrophy, distal onycholysis, brachydactyly, short stature, medullary narrowing of digits, dental decay Curr Prob Derm 14:71-116, 2002; Am J Med Genet 18:67-77, 1984 Costello syndrome – warty papules around nose and mouth, legs, perianal skin; loose skin of neck, hands, and feet, thick palmoplantar surfaces, hypoplastic nails, short stature, craniofacial abnormalities Am J Med Genet 82:187-193, 1999; JAAD 32:904-907, 1995; Am J Med Genet 41:346-349, 1991; Aust Paediat J 13:114-118, 1977 Cross-McKusick-Breen syndrome (oculocerebral syndrome with hypopigmentation) – autosomal recessive; albino-like hypopigmentation, silver-gray hair, microphthalmos, opaque cornea, nystagmus, spasticity, mental retardation; post-natal growth retardation J Pediatr 70:398-406, 1967 Cutis laxa J Med Genet 24:556-561, 1987 Darier’s disease Rook p.3261, 1998, Sixth Edition DeBarsy syndrome – autosomal recessive progeroid syndrome; cloudy corneas, mental retardation, athetoid movements,

synophrys, pinched nose, thin skin, sparse hair, large malformed ears, thin lips Eur J Pediatr 144:348-354, 1985 Depigmented hypertrichosis with dilated follicular pores, short stature, scoliosis, short broad feet, dysmorphic facies, supernumery nipple, and mental retardation (cerebral-ocular malformations) BJD 142:1204-1207, 2000 Down’s syndrome Syndromes of the Head and Neck p.35, 1990 Dyskeratosis congenita Ectodermal dysplasia with sparse hair, short stature, hypoplastic thumbs, single upper incisor, and abnormal skin pigmentation Am J Clin Genet 29:209-216, 1988 Epidermolysis bullosa, recessive dystrophic Ped Derm 19:436-438, 2002 Familial dysautonomia (Riley-Day syndrome) (hereditary sensory and autonomic neuropathy type III) – delayed growth AD 89:190-195, 1964 Familial partial lipodystrophy, mandibuloacral dysplasia variety – autosomal recessive; short stature, high pitched voice, mandibular and clavicular hypoplasia, dental anomalies, acro-osteolysis, stiff doints, cutaneous atrophy, alopecia, nail dysplasia Am J Med 108:143-152, 2000 GEMMS syndrome (glaucoma, lens ectopia, microspherophakia (small, spherical lens), joint stiffness, and short stature; cutaneous sclerosis of upper back and extremities Am J Med Genet 44:48-51, 1992 Goltz’s syndrome (focal dermal hypoplasia) Rook p.3261, 1998, Sixth Edition Gorlin-Chaudhry-Moss syndrome – short and stocky with craniosynostosis, midface hypoplasia, hypertrichosis of the scalp, arms, legs, and back, anomalies of the eyes, digits, teeth, and heart, and genitalia hypoplasia Am J Med Genet 44:518-522, 1992 Hunter’s syndrome – decreased sulfoiduronate sulfatase Ped Derm 15:370-373, 1998 Hurler’s syndrome Syndromes of the Head and Neck p.100, 1990 Hurler-Schei syndrome Syndromes of the Head and Neck p.105, 1990 Hypertrichosis cubiti (hairy elbow) JAAD 48:161-179, 2003; Clin Exp Dermatol 24:497-498, 1999; Clin Exp Dermatol 19:86-87, 1994; J Med Genet 26:382-385, 1989; with facial asymmetry Am J Med Genet 53:56-58, 1994 Hypohidrotic ectodermal dysplasia Rook p.3261, 1998, Sixth Edition Hypopituitarism – hypopituitary dwarf; hairless Rook p.2704-2705,2914, 1998, Sixth Edition Ichthyosis – failure to thrive Ichthyosis Focus 23:1,4, 2004 Ichthyosis follicularis with atrichia and photophobia (IFAP) Am J Med Genet 85:365-368, 1999; Med Genet 44:233-236, 1992 Incontinentia pigmenti JAAD 47:169-187, 2002 Infantile systemic hyalinosis – autosomal recessive; synophrys, thickened skin, perianal nodules, dusky red plaques of buttocks, gingival hypertrophy, joint contractures, juxta-articular nodules (knuckle pads), osteopenia, growth failure, diarrhea, frequent infections, facial red papules JAAD 50:S61-64, 2004 Iron deficiency in infants and children – retarded growth Rook p.2666, 1998, Sixth Edition Keratitis-ichthyosis-deafness (KID) syndrome – postnatal growth deficiency in 50% of the cases AD 115:467-471, 1979; AD 113:1701-1704, 1977 Lesch-Nyhan syndrome Arch Int Med 130:186-192, 1972 Lymphedema-distichiasis syndrome – periorbital edema, vertebral abnormalities, spinal arachnoid cysts, congenital heart

disease, thoracic duct abnormalities, hemangiomas, cleft palate, microphthalmia, strabismus, ptosis, short stature, webbed neck Ped Derm 19:139-141, 2002 Marinesco-Sjögren syndrome – sparse, fine, short, fair, brittle hair, short stature, congenital cataracts, cerebellar ataxia J Ped 65:431-437, 1964 Maroteaux-Lamy syndrome (pycnodysostosis) Syndromes of the Head and Neck p.113, 1990; Birth Defects 10:78-98, 1974 Microcephaly-lymphedema syndrome – autosomal dominant Am J Med Genet 80:506-509, 1998 Morquio syndrome Syndromes of the Head and Neck p.100, 1990 Mulibrey nanism Act Ophthalmol 52:162-171, 1974 Neu-Laxova syndrome – rudimentary eyelids, polyhydramnios, growth retardation, microcephaly, ichthyosis, thick hyperkeratotic skin Am J Med Genet 43:602-605, 1992 Neurofibromatosis Rook p.380, 1998, Sixth Edition Noonan’s syndrome – short stature or normal height with broad short, webbed neck, lymphedema of feet and legs, orbital edema, leukokeratosis of lips and gingiva, low posterior hairline, hypertrichosis of cheeks or shoulders, ulerythema oophyrogenes JAAD 46:161-183, 2002; Arch Dis Child 84:440-443, 2001; JAAD 40:877-890, 1999 Odonto-trichomelic syndrome – autosomal recessive; severe hypotrichosis, few small conical teeth, hypoplastic or absent areolae, cleft lip, tetramelic dysplasia, short stature Hum Hered 22:91-95, 1972 Oto-palatal-digital syndrome – short stature, distinctive facies, cleft palate, hearing loss, short thumbs and big toes Am J Dis Child 113:214-221, 1967 Pituitary dwarfism Rook p.2704-2705, 1998, Sixth Edition Porphyria – congenital erythropoietic porphyria Semin Liver Dis 2:154-63, 1982 Prader-Willi syndrome – obesity, hypogonadism, cryptorchidism, mental retardation, hypotonia, disproportionately small hands Dermatol Clin 10:609-622, 1992 Rabson-Mendenhall syndrome – autosomal recessive; insulinresistant diabetes mellitus, growth retardation, fissured tongue, unusual facies (prominent jaw), dental precocity, hypertrichosis, acanthosis nigricans, onychauxis, and premature sexual development, pineal hyperplasia Ped Derm 19:267-270, 2002 Ramon syndrome – cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth Am J Med Genet 25:433-441, 1986 Rapp-Hodgkin hypohidrotic ectodermal dysplasia – autosomal dominant; alopecia of wide area of scalp in frontal to crown area, short eyebrows and eyelashes, coarse wiry sparse hypopigmented scalp hair, sparse body hair, scalp dermatitis, ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or palate; nails narrow and dystrophic, small stature, hypospadius, conical teeth and anodontia or hypodontia; distinctive facies, short stature JAAD 53:729-735, 2005; Ped Derm 7:126-131, 1990; J Med Genet 15:269-272, 1968 Ring chromosome 17 – multiple café au lait macules, short stature Ped Derm 22:270-275, 2005 Robinow syndrome – overfolded helix Eur J Pediatr 151:586-589, 1992; Am J Med Genet 35:64-68, 1990 Rubinstein-Taybi syndrome – mental deficiency, small head, broad thumbs and great toes, beaked nose, malformed low-set ears, capillary nevus of forehead, hypertrichosis of back and eyebrows, large keloids, cardiac defects; mutations or deletions of chromosome 16p13.3; human cAMP response element binding protein Ped Derm 21:44-47, 2004; JAAD 46:161-183, 2002; JAAD 46:159, 2002; Cutis 57:346-348, 1996; Am J Dis Child 105:588-608, 1963

Russell-Silver syndrome – large head, short stature, premature sexual development, CALMs, clinodactyly, syndactyly of toes, triangular face JAAD 40:877-890, 1999; J Med Genet 36:837-842, 1999; Clin Genet 29:151-156, 1986; Am J Dis Child 13:447-451, 1977 Schwachman syndrome – autosomal recessive; malabsorption, failure to thrive, neutropenia; dry face with perioral dermatitis, palmoplantar hyperkeratosis J Pediatr 135:81-88, 1999; J Pediatr 65:645-663, 1964 Sjögren-Larsson syndrome Ped Derm 20:180-182, 2003 Tricho-oculo-dermo-vertebral syndrome (Alves syndrome) – dry, sparse, brittle hair, dystrophic nails, plantar keratoderma, short stature, cataracts Am J Med Genet 46:313-315, 1993 Trichorhinophalangeal syndrome Am J Hum Genet 68:81-91, 2001; Dermatology 193:349-352, 1996; trichorhinophalangeal syndrome I – autosomal dominant; pear-shaped nose, tubercle of normal skin below the lower lip, fusiform swelling of the PIP joints; fine brittle sparse hair, eyebrows sparse laterally, dense medially, short stature JAAD 31:331-336, 1994 Trichothiodystrophy syndromes – BIDS, IBIDS, PIBIDS – poikiloderma, sparse or absent eyelashes and eyebrows, brittle hair, premature aging, sexual immaturity, ichthyosis, dysmyelination, bird-like facies, dental caries; trichothiodystrophy with ichthyosis, urologic malformations, hypercalciuria and mental and physical retardation JAAD 52:224-232, 2005; JAAD 44:891-920, 2001; Ped Derm 14:441-445, 1997; trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction Am J Med Genet 35:566-573, 1990 Turner’s syndrome (XO in 80%) – peripheral edema at birth which resolves by age 2; redundant neck skin in newborn; small stature, broad shield-shaped cest with widely spaced nipples, arms show wide carrying angle, webbed neck, low posterior hairline, low misshhapen ears, high arched palate, cutis laxa of neck and buttocks, short fourth and fifth metacarpals and metatarsals, hypoplastic nails, keloid formation, increased numbers of nevi; skeletal, cardiovascular, ocular abnormalities; increased pituitary gonadotropins with low estrogen levels JAAD 46:161-183, 2002; JAAD 40:877-890, 1999; NEJM 335:1749-1754, 1996 Variegate porphyria – homozygous variegate porphyria – erosions, photosensitivity, short stature BJD 144:866-869, 2001 Werner’s syndrome Medicine 45:177-221, 1966 Wolf-Hirschhorn syndrome – 4p deletion; posterior midline scalp defects, cutaneous T-cell lymphoma, growth retardation Ped Derm 22:270-275, 2005 Xeroderma pigmentosum Rook p.3261, 1998, Sixth Edition X-linked recessive ichthyosis with mild mental retardation, chondrodysplasia punctata and short stature Clin Genet 34:31-37, 1988 Zinc deficiency, endemic Am J Clin Nutr 30:833-834, 1977; Arch Int Med 111:407-428, 1963

Chronic granulomatous disease – scrofula JAAD 36:899-907, 1997 Dermatomyositis – panniculitis with ulceration and sinuses Rook p.1560, 1998, Sixth Edition Leukocyte adhesion deficiency JAAD 31:316-319, 1994 Rheumatoid arthritis – fistulous rheumatism; tracking of nodules to skin JAAD 53:191-209, 2005

Accessory auricles with congenital fistulae Rook p.3016, 1998, Sixth Edition Branchial cleft sinus and fistulae – pit in lower third of the neck along anterior border of sternocleidomastoid muscle; skin tag at opening Arch Otolaryngol Head Neck Surg 123:438-441, 1997; Clin Otolaryngol 3:77-92, 1978; Melnick-Fraser syndrome – preauricular pits, hearing loss, and renal anomalies Bronchogenic cyst and sinus Ped Derm 15:277-281, 1998; JAAD 11:367-371, 1984 Cloacal sinuses – between anus and adjoining skin; urethra, perineum Rook p.3169, 1998, Sixth Edition Congenital dermal sinus – over lower spine; hair may protrude from opening Pediatr Neurosurg 26:275, 1997; AD 112:1724-1728, 1976 Congenital lip sinus Ghatan p.34, 2002, Second Edition Congenital pilonidal sinus Pediatrics 35:795-797, 1965 Congenital sinus or cyst of genitoperineal raphe (mucous cysts of the penile skin) Cutis 34:495-496, 1984; AD 115:1084-1086, 1979 Dermoid cyst and sinus Neurosurg Clin N Am 6:359-366, 1995; AD 107:237-239, 1973 Dorsal dermal sinus – dimple in suboccipital or lumbosacral regions AD 112:1724-1728, 1976; J Pediatr 87:744-750, 1975 Fourth branchial sinus causing recurrent cervical abscess Aust N Z J Surg 67:119-122, 1997 Fistula in ano Dis Colon Rectum 41:1147-1152, 1998 Omphalomesenteric duct – patent peripheral portion of omphalomesenteric duct; red nodule with a fistula with fecal discharge or intestinal prolapse Am J Surg 88:829-834, 1954 Preauricular cyst and sinuses Textbook of Neonatal Dermatology, p.118, 2001; J La State Med Soc 151:447-450, 1999; Plast Reconstr Surg 102:1405-1408, 1998 Spinal dysraphism, occult – overlying protrusion, dimple, sinus, lipoma, faun tail nevus, dermoid cyst, hemangioma, port wine stain AD 114:573-577, 1978; AD 112:1724-1728, 1976 Sternal clefts – associated with fistulae, ulceration or scarring, supra-umbilical midline raphe, and facial hemangiomas Rook p.601, 1998, Sixth Edition Thyroglossal duct cyst and/or sinus – midline cervical cleft with sinus tract Am J Neuroradiol 20:579-582, 1999; JAAD 26:885-902, 1992; J Pediatr Surg 19:437-439, 1984

Neurotrophic ulcers including those associated with neuropathies – on metatarsal heads and heels with surrounding (hemorrhagic) callosities Rook p.2775, 1998, Sixth Edition

Barber’s hair sinus Derm Surg 29:288-290, 2003; AD 112:523-524, 1976 BCG vaccination with scrofuloderma Ped Derm 22:179-180, 2005 Foreign body Hair sinus of the breast Clin Exp Dermatol 7:445-447, 1982 Hair sinuses of the feet Paraffinoma – grease gun injury; nodule, plaque, sinus of hand BJD 115:379-381, 1986 Silicone, injected – draining sinuses AD 141:13-15, 2005; Derm Surg 27:198-200, 2001 Umbilical hair sinus

Actinomycosis (A. israelii ) – cervicofacial – nodule of cheek or submaxillary area; board-like induration; multiple sinuses with puckered scarring; sulfur granules discharged Cutis 60:191-193, 1997; Infect Dis Clin North Am 2:203-220, 1988; Arch Int Med 135:1562-1568, 1975; perianal Dis Colon Rectum 37:378-380, 1994; thoracic actinomycosis with multiple sinuses Am J Clin Pathol 75:113-116, 1981; abdominal Hum Pathol 4:319-330, 1973; primary cutaneous – subcutaneous nodules with draining sinuses Hum Pathol 4:319-330, 1973; actinomycetoma – forehead sinus tracts; Nocardia braseliensis, N. asteroides BJD 143:192-194, 2000 African blastomycosis Alveolar echinococcosis JAAD 34:873-877, 1996 Amebiasis – perianal abscesses and fistulae Proc R Soc Med 66:677-678, 1973; Entamoeba histolytica in neonate Textbook of Neonatal Dermatology, p.234, 2001 Botryomycosis – granulomatous reaction to bacteria with granule formation; single or multiple abscesses of skin and subcutaneous tissue break down to yield multiple sinus tracts; small papule; extremities, perianal sinus tracts, face JAAD 24:393-396, 1991; Int J Dermatol 22:455-459, 1983; AD 115:609-610, 1979 Calymmatobacterium granulomatis (Donovanosis) J Clin Inf Dis 25:24-32, 1997 Carbuncle Rook p.1119, 1998, Sixth Edition Coccidioidomycosis South Med J 77:1464-1465, 1984 Cryptococcosis JAAD 32:844-50, 1995 Dental sinus Cutis 70:264-267, 2002; J Am Dent Assoc 130:832-836, 1999; JAAD 14:94-100, 1986; JAAD 8:486-492, 1983; AD 114:1158-1161, 1978; in edentulous patients with retained tooth fragments J Craniofac Surg 11:254-257, 2000; dual sinus tracts Oral Surg Oral Med Oral Pathol 52:653-656, 1981 Giant condyloma of Buschke and Lowenstein AD 136:707-710, 2000 Glanders Granuloma inguinale – fistulae and scarring Rook p.3222, 1998, Sixth Edition Histoplasmosis with fistulae AD 132:341-346, 1996 Linear bacterial dissection Cutis 51:43-44, 1993 Lymphogranuloma venereum – inguinal adenitis with abscess formation and draining chronic sinus tracts; rectal syndrome in women with pelvic adenopathy, periproctitis with rectal stricture and fistulae; esthiomene – scarring and fistulae of the buttocks and thighs with elephantiasic lymphedema of the vulva; lymphatics may develop abscesses which drain and form ulcers Int J Dermatol 15:26-33, 1976 Malacoplakia AD 134:244-245, 1998; Am J Dermatopathol 20:185-188, 1998; JAAD 34:325-332, 1996; JAAD 30:834-836, 1994 Mamillary fistula (periareolar abscess) Br J Surg 73:367-368, 1986 Melioidosis AD 135:311-322, 1999 Milker’s sinuses Mycetoma – eumycetoma; Acremonium falciforme, Madurella mycetomatis, Madurella grisea, Exophiala jeanselmei, Leptosphaeria senegalensis, Leptosphaeria tompkinsii; actinomycetoma – Nocardia asteroids, Nocardia brasiliensis, Actinomyces madurae, Streptomyces somaliensis JAAD 32:311-315, 1995; Cutis 49:107-110, 1992; Australas J Dermatol 31:33-36, 1990; JAAD 6:107-111, 1982; due to

Microsporum canis Mycopathologica 81:41-48, 1983; Scytalidium dimidiatum (formerly Hendersonula toruloidea) BJD 148:174-176, 2003 Mycobacterium abscessus J Clin Inf Dis 24:1147-1153, 1997 Mycobacterium avium complex JAAD 26:1108-1110, 1990 Mycobacterium avium-intracellulare – cervicofacial lymphadenitis in children with fistulae Ped Derm 21:24-29, 2004 Mycobacterium chelonae J Inf Dis 166:405-412, 1992 Mycobacterium fortuitum Dermatol Surg 26:588-590, 2000 Mycobacterium malmoense – cervicofacial lymphadenitis in children with fistulae Ped Derm 21:24-29, 2004 Mycobacterium szulgai – diffuse cellulitis, nodules, and sinuses Am Rev Respir Dis 115:695-698, 1977 Mycobacterium tuberculosis – scrofuloderma – infected lymph node, bone, joint, lacrimal gland with overlying red-blue nodule which breaks down, ulcerates, forms fistulae, scarring with adherent fibrous masses which may be fluctuant and draining JAAD 52:S65-68, 2005; Ped Derm 20:309-312, 2003; Ped Derm 18:328-331, 2001; BJD 134:350-352, 1996; Thorax 16:77-81, 1967 Nocardia brasiliensis – mycetoma or multiple subcutaneous draining nodules mimicking foreign body granuloma Cutis 60:191-193, 1997; JAAD 13:125-133, 1985; J Inf Dis 134:286-289, 1976; mediastinal infection with draining sternal sinus tracts West J Med 167:47-49, 1997; Nocardia asteroides – mycetoma BJD 144:639-641, 2001 North American blastomycosis (Blastomyces dermatitidis) JAAD 21:1285-1293, 1989; Oral Surg Oral Med Oral Pathol 54:12-14, 1982 Osteomyelitis Radiology 173:355-359, 1989 Paecilomycosis Paracoccidioidomycosis JAAD 31:S91-S102, 1994 Pasteurella multocida (P. haemolytica, pneumotropica, and ureae) – cellulitis with ulceration with hemorrhagic purulent discharge with sinus tracts JAAD 33:1019-1029, 1995; Medicine 63:133-144, 1984 Schistosomal granuloma – perianal hypertrophic plaques; perianal fissuring; paragenital granulomas due to S. haematobium. May have communicating sinuses and fistulae Br J Vener Dis 55:446-449, 1979 Sporotrichosis – fistulae Derm Clinics 17:151-185, 1999 Syphilis – tabes dorsalis – callus with sinus tract of weight bearing regions of sole Arch Neurol 42:606-613, 1985 Tinea capitis (T. verrucosum, T. mentagrophtes) – kerion AD 114:371-372, 1978 Tinea corporis, invasive (T.violaceum) BJD 101:177-183, 1979

Langerhans cell histiocytosis – draining sinuses over involved lymph nodes Rook p.2320, 1998, Sixth Edition; Curr Prob Derm VI Jan/Feb 1994; Clin Exp Derm 11:183-187, 1986; JAAD 13:481-496, 1985

Crohn’s disease – enterocutaneous fistula NEJM 347:417-429, 2002; Gut 45:874-878, 1999; fistulae and sinus tracts BJD 80:1-8, 1968; penile sinus tracts/fistulae Cutis 72:432-437, 2003

Dissecting cellulitis of the scalp (perifolliculitis capitis abscedens et suffodiens) Cutis 67:37-40, 2001; Minn Med 34:319-325, 1951; AD 23:503-518, 1931 Diverticulitis of sigmoid colon Ghatan p.33, 2002, Second Edition Esophago-pleuro-cutaneous fistula Jpn J Surg 14:139-142, 1984 Hidradenitis suppurativa Derm Surg 26:638-643, 2000; BJD 141:231-239, 1999; retroauricular sinus Ghatan p.34, 2002,Second Edition Peristomal fistulae and ulcers Ann Surg 197:179-182, 1982 Peristomal hidradenitis suppurativa J Wound Ostomy Continence Nurs 23:171-173, 1996 Pseudofolliculitis barbae Pyoderma fistulans sinifica (fox den disease) Clin Inf Dis 21:162-170, 1995 Pyodermia chronica glutealis J Dermatol 25:242-245, 1998 SAPHO syndrome

Calcinosis cutis Pancreatic cutaneous fistulas Am J Surg 155:36-42, 1988

Adenocarcinoma of the colon Ghatan p.34, 2002, Second Edition Nevus comedonicus AD 116:1048-1050, 1980 Pilonidal cyst and sinus Surg Clin North Am 74:1309-1315, 1994 Sacro-coccygeal chordoma – mimicking pilonidal sinus J R Coll Surg Edinb 45:254-255, 2000 Squamous cell carcinoma Am J Orthop 28:253-256, 1999; anal squamous cell carcinoma in situ – multiple fistulae J Clin Inf Dis 21:603-607, 1995; Am J Gastroenterol 86:1829-1832, 1991 Suppurative keloidosis JAAD 15:1090-1092, 1986 Verrucous carcinoma (epithelioma cuniculatum) AD 136:547-548, 550-551, 2000; Cancer 49:2395-2403, 1982

Acne conglobata Ped Derm 17:123-125, 2000; familial – plaque with sinus tracts JAAD 14:207-214, 1986 Acne keloidalis nuchae JAAD 39:661, 1998 Acne rosacea Hautarzt 46:417-420, 1995 Pyoderma faciale AD 128:1611-1617, 1992

Branchio-oto-renal syndrome – pre-auricular sinus tract or cyst, abnormal pinna, branchial cleft fistulae and/or cyst; autosomal dominant, chromosome 8q Genomics 14:841-844, 1992; Clin Genet 9:23-34, 1976

Pressure ulcer Clin Geriatr Med 13:455-481, 1997

SPINAL DYSRAPHISM, CUTANEOUS STIGMATA AD 140:1109-1115, 2004; Textbook of Neonatal Dermatology, p.123, 2001; JAAD 31:892-896, 1994; AD 118:643-648, 1982

Depressed lesions Aplasia cutis congenita (denuded skin) Dermal sinus Deviated superior gluteal crease Dimple (dermal pit) – large, greater than 2.5-cm from anal verge Dimple – small; less than 2.5-cm from anal verge; low index of suspicion Scar Sinus tract (with or without dermoid cyst)

Dermal lesions Congenital scar Connective tissue nevus Hamartoma, unclassifiable Hypertrophic skin Neurofibroma

Dyschromic lesions Hyperpigmentation – low index of suspicion Hypopigmentation or depigmentation

Hairy lesions Hypertrichosis (faun tail nevus)

Neoplasms (benign or malignant) Ependymoma Epidermal nevus AD 118:643-648, 1982 Hamartoma, unclassified Lipoma, sacral Melanocytic nevi – low index of suspicion Neurofibroma Teratoma – low index of suspicion

Polypoid lesions Acrochordon Pseudotail True tail (human tail)

Subcutaneous nodules Dermoid cyst or sinus Lipoma Neural tissue – includes ependymoma, lipomeningocoele, lipomyelomeningocoele, occult meningocoele, neurofibroma

Vascular lesions Port wine stain – low index of suspicion Hemangioma Lipoma with overlying port wine stain AD 140:1109-1115, 2004 Lumbar twin nevus – combined telangiectasia and nevus anemicus Ped Derm 21:664-666, 2004 Telangiectasia – low index of suspicion

Types of spinal dysraphism Dermal sinus tract Diastemetamyelia Filum terminale with tethered conus Hydrosyringomyelia Lipomyelomeningocoele Myelomeningocoele Neurofibroma

JAAD 50:289-292, 2004 Anti-phospholipid antibody syndrome Arthritis

Behcet’s disease Blood dyscrasia Buerger’s disease Cancer chemotherapy Cirrhosis Collagen vascular disease Cryoglobulinemia Cutaneous T-cell lymphoma Darier’s disease Dermatitis Diabetes mellitus Emboli, arterial Exfoliative dermatitis Fungal endocarditis Hemochromatosis Hemodialysis High altitude Hypertension Hypoparathyroidism Idiopathic Indwelling brachial artery cannula Internal malignancy Langerhans cell histiocytosis Lupus erythematosus, subacute cutaneous LE Mitral sternosis Occupational trauma Onychomycosis Osler-Weber-Rendu syndrome Peptic ulcer disease Peritoneal dialysis Psoriasis Pterygium Pulmonary disease Radial artery puncture Raynaud’s disease Renal disease Sarcoidosis Scurvy Sepsis Subacute bacterial endocarditis Sweet’s syndrome Tetracycline Thyrotoxicosis Trauma Trichinosis Vasculitis

SPOROTRICHOID LESIONS AD 131:1329-1334, 1995 Alternaria infectoria BJD 145:484-486, 2001 Anthrax Cat scratch fever

Coccidioidomycosis Cow pox BJD 122:705-708, 1990 Cryptococcus BJD 120:683-687, 1989 Ecthyma Cutis 54:279-286, 1994 Epithelioid sarcoma Fusarium Glanders (Burkholderia mallei ) Cutis 54:279-286, 1994 Histoplasmosis Insect bites Kaposi’s sarcoma Leishmaniasis JAAD 51:S125-128, 2004; BJD 147:1022-1023, 2002; JAAD 36:847-849, 1997; South Med J 90:325-327, 1997; American leishmaniasis (Leishmania brasiliensis) and L. major BJD 153:203-205, 2005; Trans R Soc Trop Med Hyg 88:552-554, 1994; JAAD 17:759-764, 1987 Lipomas Lymphatic tumors Lymphogranuloma venereum Cutis 54:279-286, 1994 Melioidosis Ghatan p.20, 2002, Second Edition Mercury granuloma JAAD 43:81-90, 2000 Metastases Mycetoma JAAD 49:S170-173, 2003 Mycobacterium avium-intracellulare JAAD 47:S249-250, 2002; AD 129:1343-1344, 1993; AD 124:1545-1549, 1988 Mycobacterium bovis JAAD 43:535-537, 2000 Mycobacterium chelonei (M. abscessus) BJD 151:1101, 2004; J Cutan Med Surg 5:28-32, 2001; BJD 143:1345, 2000; Clin Inf Dis 18:999-1001, 1994; Clin Exp Dermatol 14:309-312, 1989; Ann DV 112:319-324, 1985 Mycobacterium fortuitum Mycobacterium kansasii JAAD 41:854-856, 1999; JAAD 36:497-499, 1997 Mycobacterium marinum Clin Inf Dis 31:439-443, 2000; Clin Exp Dermatol 23:214-221, 1998; facial J Pediatr 130:324-326, 1997; AD 122:698-703, 1986 Mycobacterium scrofulaceum AD 138:689-694, 2002 Mycobacterium tuberculosis – tuberculous gumma; extremities more than trunk Scand J Infect Dis 32:37-40, 2000; Int J Dermatol 26:600-601, 1987; JAAD 6:101-106, 1982; Semin Hosp Paris 43:868-888, 1967; primary tuberculosis; tuberculosis verrucosa cutis Ped Derm 18:393-395, 2001; lupus vulgaris Int J Derm 40:336-339, 2001; sporotrichoid pattern Int J Derm 40:336-339, 2001 Mycobacterium xenopi Cutis 67:81-82, 2001 Nocardiosis J Inf Dis 134:286-289, 1976; Nocardia brasiliensis Cutis 76:33-35, 2005; N. asteroides BJD 144:639-641, 2001; AD 124:659-660, 1988; N. caviae JAAD 29:639-641, 1993; N. transvaalensis JAAD 28:336-340, 1993 North American blastomycosis Ghatan p.20, 2002, Second Edition Paecilomyces lilacinus JAAD 39:401-409, 1998 Phaeohyphomycosis – Alternaria infectoria BJD 145:484-486, 2001 Pseudoallescheria boydii AD 138:271-272, 2002 Rat bite fever Ghatan p.20, 2002, Second Edition Scedosporiosis Rev Inst Med Trop Sao Paulo 39:227-230, 1997 Spindle cell hemangioendotheliomas Cutis 62:23-26, 1998 Sporotrichosis Cutis 54:279-286, 1994; Dermatologica 172:203-213, 1986

Squamous cell carcinoma Staphylococcus aureus Clin Inf Dis 21:433-434, 1995; Dermatologica 178:278-80, 1989 Streptococcus pyogenes Syphilis – extragenital chancre Trichosporon beigelii Tularemia – Franciscella tularensis; skin, eye, respiratory, gastrointestinal portals of entry; ulceroglandular, oculoglandular, glandular types; toxemic stage heralds generalized morbilliform eruption, erythema multiforme-like rash, crops of red nodules on extremities Medicine 54:252-269, 1985

SPOTTY PIGMENTATION OF THE FACE Carney complex Cronkhite-Canada syndrome LEOPARD syndrome Noonan’s syndrome Seborrheic keratoses, macular Solar lentigines Turner’s syndrome

STRIAE DISTENSAE Adolescent/pubertal striae Athletes, weight lifters Prolonged therapy with ACTH or adrenocorticosteroids Cushing’s syndrome/disease Semin Dermatol 3:287-294, 1984 Growth striae Ghatan p.252, 2002, Second Edition Liver disease, chronic – lower abdomen, thighs, buttocks Rook p.2725, 1998, Sixth Edition Marfan’s syndrome – progressive striae Textbook of Neonatal Dermatology, p.459, 2001; Int J Dermatol 28:291-299, 1989 Mid-dermal elastolysis Int J Derm 28:426, 1989 Obesity Pregnancy Protease inhibitors – intra-abdominal fat (‘crix belly’) (‘protease paunch’) Pruritic urticarial papules and plaques of pregnancy (PUPPP) Rapid weight gain or loss Topical steroid therapy, either superpotent or under occlusion

SYNDACTYLY Aarskog syndrome (facio-digito-genital syndrome) – X-linked recessive – anteverted nostrils, long philtrum, broad nasal bridge; short broad hands with syndactyly, scrotal shawl (scrotal fold which surrounds the base of the penis); skeletal defects; learning disabilities J Pediatr 77:856-861, 1970 Albright’s hereditary osteodystrophy Acrocallosal syndrome (Greig cephalopolysyndactyly syndrome) (Greig’s polysyndactyly-cranial dysmorphism syndrome) – abnormal upper lids, frontonasal dysostosis, callosal agenesis, cleft lip/palate, redundant skin of neck, grooved chin, bifid thumbs, polydactyly, syndactyly Am J Med

Genet 43:938-941, 1992; Am J Med Genet 32:311-317, 1989; Clin Genet 24:257-265, 1983 Acrodental dysostosis (polydactyly, conical teeth, nail dystrophy, short limbs) Birth Defects 15:253-263, 1979 Acrodermatitis continua of Hallopeau BJD 152:1083-1084, 2005 Acro-fronto-facio-nasal dysostosis Am J Med Genet 20:631-638, 1985 Acro-renal complex Adams-Oliver syndrome Bolognia p.930, 2003 Albright’s hereditary osteodystrophy Amnion rupture malformation sequence (amniotic band syndrome) – congenital ring constrictions and intrauterine amputations; secondary syndactyly, polydactyly; distal lymphedema JAAD 32:528-529, 1995; Am J Med Genet 42:470-479, 1992; Cutis 44:64-66, 1989 Ankyloblepharon-ectrodactyly-cleft lip/palate syndrome (AEC syndrome) Apert’s syndrome (acrocephalosyndactyly) – craniosynostosis, mid-facial malformations, symmetrical syndactyly; severe acne vulgaris; mutation of fibroblast growth factor receptor-2 AD 102:381-385, 1970; Ann Hum Genet 24:151-164, 1960; Bull Soc Med Hop (Paris) 23:1310-1330, 1906 Aplasia cutis congenita type II – scalp ACC with associated limb anomalies; hypoplastic or absent distal phalanges, syndactyly, club foot, others Ped Derm 19:326-329, 2002 Auralcephalosyndactyly J Med Genet 25:491-493, 1988 Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly, and short stature Clin Genet 41:57-61, 1992 Autosomal recessive ectodermal dysplasia with corkscrew hairs, pili torti, syndactyly, keratosis pilaris, onychodysplasia, dental abnormalities, conjunctival erythema, palmoplantar keratoderma, cleft lip or palate, and mental retardation JAAD 27:917-921, 1992 Bannayan-Riley-Ruvalcaba-Zonana syndrome (PTEN phosphatase and tensin homolog hamartoma) – dolicocephaly, frontal bossing, macrocephaly, ocular hypertelorism, long philtrum, thin upper lip, broad mouth, relative micrognathia, lipomas, penile or vulvar lentigines, facial verruca-like or acanthosis nigricans-like papules, multiple acrochordons, angiokeratomas, transverse palmar crease, accessory nipple, syndactyly, brachydactyly, vascular malformations, arteriovenous malformations, lymphangiokeratoma, goiter, hamartomatous intestinal polyposis JAAD 53:639-643, 2005 Bart’s syndrome with germ line mosaicism Bowen-Armstrong syndrome – ectodermal dysplasia, syndactyly, mental retardation, autosomal recessive Clin Genet 9:35-42, 1976 Burns BJD 152:1083-1084, 2005 C syndrome (Opitz trigonocephaly syndrome) Birth Defects 5:161-166, 1969 Carpenter’s syndrome Klin Pediatr 189:120, 1977 Cenani-Lenz syndactyly syndrome CHARGE syndrome – syndactyly, short stature, coloboma of the eye, heart anomalies, choanal atresia, somatic and mental retardation, genitourinary abnormalities, ear anomalies, primary lymphedema Ped Derm 20:247-248, 2003; J Med Genet 26:202-203, 1989 Cleft lip/palate – ectodermal dysplasia Bolognia p.930, 2003 Cleft lip-palate, mental and growth retardation, sensorineural hearing loss, and postaxial polydactyly Syndromes of the Head and Neck, p.772, 1990 Cleft lip-palate, preaxial and postaxial polydactyly of hands and feet, congenital heart defect, and genitourinary anomalies Syndromes of the Head and Neck, p.751, 1990

Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, mental retardation J Med Genet 24:291-293, 1987 Cleft palate, absent tibiae, preaxial polydactyly of the feet, and congenital heart defect Am J Dis Child 129:714-716, 1975 Cleft palate, dysmorphic facies, digital defects Syndrome Ident 5:14-18, 1977 Cleft palate, microcephaly, short stature – large ears Cleft uvula, preaxial and postaxial polysyndactyly, somatic and motor retardation Eur J Pediatr 130:47-51, 1979 Congenital onychodysplasia of the index fingers (COIF) (Iso Kikuchi syndrome) J Hand Surg 15A:793-797, 1990 Cornelia de Lange syndrome Am J Med Genet 25:163-165, 1986 Craniofrontonasal syndrome Birth Defects 15:85-89, 1979 Curry-Jones syndrome – streaks of atrophy with craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum Clin Dysmorphol 4:116-129, 1995 del (3p) syndrome J Med Genet 21:307-310, 1984 Distal aphalangia, syndactyly, extra metatarsal, short stature, microcephaly, borderline intelligence – autosomal dominant Am J Med Genet 55:213-216, 1995 Dubowitz syndrome Duplication of the eyebrows, stretchable skin and syndactyly Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome) – syndactyly; split hand Ped Derm 20:113-118, 2003 EEM syndrome Bolognia p.930, 2003 Ellis-van Creveld syndrome J Med Genet 17:349-356, 1980 Epidermal (sebaceus) nevus syndrome Bolognia p.930, 2003 Epidermolysis bullosa – cicatricial junctional EB – scarring, alopecia, syndactyly, contractures JAAD 12:836-844, 1985; recessive dystrophic EB Epidermolysis Bullosa: Basic and Clinical Aspects. New York:Springer, 1992:135-151 FG syndrome (unusual facies, mental retardation, congenital hypotonia, imperforate anus) Am J Med Genet 19:383-386, 1984 Filippi syndrome – short stature, microcephaly, characteristic face, syndactyly, mental retardation Genet Couns 4:147-151, 1993 Finlay-Marks syndrome (scalp-ear-nipple syndrome) – nipple or breast hypoplasia or aplasia, aplasia cutis congenita of scalp, abnormal ears and teeth, nail dystrophy, syndactyly, reduced apocrine secretion Bolognia p.924, 2003 Fontaine syndrome (ectrodacytyly of the feet and cleft palate) J Genet Hum 22:289-307, 1974 Fraser syndrome (cryptophthalmos-syndactyly syndrome) Frontonasal malformation Clin Genet 10:214-217, 1976 Frydman syndrome – autosomal recessive; prognathism, syndactyly, short stature, blepharophimosis, weakness of extraocular and frontal muscles, synophrys Clin Genet 41:57-61, 1992 Goltz’s syndrome (focal dermal hypoplasia) – asymmetric linear and reticulated streaks of atrophy and telangiectasia; yellow-red nodules; raspberry-like papillomas of lips, perineum, acrally, at perineum, buccal mucosa; linear alopecia, xerosis; scalp and pubic hair sparse and brittle; short stature; asymmetric face; syndactyly, polydactyly; ocular, dental, and skeletal abnormalities with osteopathia striata of long bones Cutis 53:309-312, 1994; J Dermatol 21:122-124, 1994; JAAD 25:879-881, 1991 Hemihyperplasia-multiple lipomatosis syndrome – extensive congenital vascular stain, compressible blue nodule, multiple

subcutaneous nodules, hemihypertrophy, syndactyly, thickened but not cerebriform soles, dermatomyofibroma Soc Ped Derm Annual Meeting, July 2005; Am J Med Genet 130A:111-122, 2004; Am J Med Genet 79:311-318, 1998 Hidrotic ectodermal dysplasia AD 113:472-476, 1977 Holoprosencephaly syndrome Holt-Oram syndrome (Hand-heart syndrome type I) Hydrolethalus syndrome Am J Med Genet 27:935-942, 1987 Hypohidrosis and diabetes insipidus (Fleck syndrome) – hypohidrosis, hypotrichosis, diabetes insipidus, syndactyly, coloboma, disturbed hematopoiesis Dermatol Wochenschr 132:994-1007, 1955 Hypomelanosis of Ito/pigmentary mosaicism Bolognia p.930, 2003 Kabuki makeup syndrome – short stature, distinct face (long palpebral fissures, eversion of the lower eyelids, sparse arched lateral eyebrows, prominent malformed ears), cutis laxa, hyperextensible joints, syndactyly, fetal finger pads with abnormal dermatoglyphics, mental retardation JAAD S247-251, 2005; Am J Med Genet 94:170-173, 2000; Am J Med Genet 31:565-589, 1988; J Pediatr 105:849-850, 1984; J Pediatr 99:565-569, 1981 Kaufman-McKusick syndrome – hydrometrocolpos, postaxial polydactyly, congenital heart defect Eur J Pediatr 136:297-305, 1981 Kindler’s syndrome – webbing due to congenital blistering AD 140:939-944, 2004; AD 1487-1490, 1996 Klippel-Trenaunay syndrome Bolognia p.930, 2003 Koraxitrachitic syndrome – self-healing collodion baby; heals with mottled reticulated atrophy; alopecia, absent eyelashes and eyebrows, conjunctival pannus, hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly of interdigital spaces Am J Med Genet 86:454-458, 1999 LADD syndrome Eur J Pediatr 146:536-537, 1987 Lenz-Majewski syndrome Radiology 149:129-131, 1983 LEOPARD (Moynahan’s) syndrome – CALMs, granular cell myoblastomas, steatocystoma multiplex, small penis, hyperelastic skin, low-set ears, short webbed neck, short stature, syndactyly JAAD 46:161-183, 2002; JAAD 40:877-890, 1999; Am J Med 60:447-456, 1976 Lichen planus, ulcerative – webbing of toes J R Soc Med 79:363-365, 1986 Macrocephaly – cutis marmorata telangiectatica congenita syndrome (macrocephaly, cutis marmorata, hemangioma, and syndactyly syndrome) – macrocephaly, hypotonia, hemihypertrophy, hemangioma, cutis marmorata telangiectatica congenita, internal arteriovenous malformations, syndactyly, joint laxity, hyperelastic skin, thickened subcutaneous tissue, developmental delay, short stature, hydroocephalus Ped Derm 16:235-237, 1999; Genet Couns 9:245-253, 1998; Am J Med Genet 70:67-73, 1997 Mal de Meleda – autosomal dominant, autosomal recessive transgrediens with acral erythema in glove-like distribution; syndactyly Dermatology 203:7-13, 2001; AD 136:1247-1252, 2000; J Dermatol 27:664-668, 2000; Dermatologica 171:30-37, 1985 Meckel syndrome – microcephaly, microphthalmia, congenital heart defects, postaxial polydactyly, polycystic kidneys, cleft lip/palate J Med Genet 8:285-290, 1971 Nail-patella syndrome (Fong’s syndrome, hereditary onychoosteodysplasia, Turner-Kieser syndrome) – autosomal dominant; webbing between digits and/or within popliteal fossa, cloverleaf iris (Lester iris); LMX1B mutation (dorsal/ventral patterning) JAAD 49:1086-1087, 2003

Nasal alar colobomas, mirror hands and feet, and talipes J Bone Jt Surg 52:367-370, 1970 Neu-Laxova syndrome – variable presentation; mild scaling to harlequin ichthyosis appearance; ichythosiform scaling, increased subcutaneous fat and atrophic musculature, generalized edema and mildly edematous feet and hands, absent nails; microcephaly, intrauterine growth retardation, limb contractures, low-set ears, sloping forehead, short neck; small genitalia, eyelid and lip closures, syndactyly, cleft lip and palate, micrognathia; autosomal recessive; uniformly fatal Ped Derm 20:25-27,78-80, 2003; Curr Prob Derm 14:71-116, 2002; Clin Dysmorphol 6:323-328, 1997; Am J Med Genet 35:55-59, 1990; Am J Med Genet 13:445-452, 1982 Nevoid basal cell carcinoma syndrome JAAD 53:S256-259, 2005; JAAD 11:98-104, 1984 Oculo-dento-osseous (oculo-dento-digital) dysplasia – sparse scalp hair, eyebrows and eyelashes sparse or absent, small closely set sunken eyes, small mouth, enamel hypoplasia producing yellow teeth, syndactyly, camptodactyly, iris anomalies, hypertelorism J Pediatr 63:69-75, 1963 Opitz trigonocephaly syndrome (Smith-Lemli-Opitz syndrome) – syndactyly of 2nd and 3rd toes BJD 138:885-888, 1998; Am J Dis Child 129:1348, 1975 Oral-facial-digital syndrome type I (Papillon-Leage syndrome) – X-linked dominant; short upper lip, hypoplastic ala nasi, hooked pug nose, hypertrophied labial frenulae, bifid or multilobed tongue with small tumors within clefts, clefting of hard and soft palate, teeth widely spaced, trident hand or brachydactyly, syndactyly, or polydactyly; hair dry and brittle, alopecic, numerous milia of face, ears, backs of hands, mental retardation Ped Derm 9:52-56, 1992 Oro-acral syndrome – microglossia to aglossia, cleft palate Oto-palato-digital syndrome Pallister-Hall syndrome Am J Med Genet 7:75-83, 1980 Pfeiffer syndrome – syndactyly, craniosynostosis, broad great toes, pre-auricular tag, gingival hypertrophy Z Kinderheilkd 90:301-320, 1964 Pili torti, defective teeth, webbed fingers JAAD 46:301-303, 2002 Poland’s chest wall deformity – breast and pectoralis muscle hypoplasia; absence of axillary hair, ipsilateral syndactyly, dermatoglyphic abnormalities Clin Exp Dermatol 25:308-311, 2000; Plast Reconstr Surg 99:429-436, 1997 Polydactyly and syndactyly Popliteal pterygium syndrome – autosomal dominant; bilateral popliteal pterygia, intercrural pterygium, hypoplastic digits, valgus or varus foot deformities, syndactyly, cryptorchidism, inguinal hernia, cleft scrotum, lower lip pits, mucous membrane bands, eyelid adhesions J Med Genet 36:888-892, 1999; Int J Pediatr Otorhinolaryngol 15:17-22, 1988 Postaxial acrofacial dysostosis J Pediatr 95:970-975, 1979 Postaxial polydactyly-dental-vertebral syndrome J Pediatr 90:230-235, 1977 Proteus syndrome Bolognia p.930, 2003 Rabenhorst syndrome – syndactyly of 2nd and 3rd toes Rapp-Hodgkin hypohidrotic ectodermal dysplasia – autosomal dominant; alopecia of wide area of scalp in frontal to crown area, short eyebrows and eyelashes, coarse wiry sparse hypopigmented scalp hair, sparse body hair, scalp dermatitis, ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or palate; nails narrow and dystrophic, small stature, hypospadius, conical teeth and anodontia or hypodontia; distinctive facies, short stature JAAD 53:729-735, 2005; Ped Derm 7:126-131, 1990; J Med Genet 15:269-272, 1968

Reticulolinear aplasia cutis congenita of the face and neck – Xp deletion syndrome, MIDAS (microphthalmia, dermal aplasia, sclerocornea), MLS (microphthalmia and linear skin defects), and Gazali-Temple syndrome (syndactyly); lethal in males; residual facial scarring in females, short stature, organ malformations BJD 138:1046-1052, 1998 Robert’s syndrome (pseudothalidomide syndrome) Rosselli-Gulinetti syndrome – autosomal recessive, hypohidrosis, fine, dry, sparse scalp hair, dystrophic nails and teeth, cleft lip and palate, syndactyly, defects of external genitalia J Plast Surg 14:190-204, 1961 Russell-Silver syndrome – large head, short stature, premature sexual development, CALMs, clinodactyly, syndactyly of toes, triangular face JAAD 40:877-890, 1999; J Med Genet 36:837-842, 1999 Saethre-Chotzen syndrome – partial syndactyly of second and third fingers, craniosynostosis, low-set frontal hairline, facial asymmetry, ptosis, brachydactyly, other skeletal anomalies Rook p.426, 1998, Sixth Edition; Dtsch Z Nerverneilkd 117:533-555, 1931 Sataki syndrome J Pediatr 79:104-109, 1971 Say-Poznanski syndrome Pediatr Radiol 17:93-96, 1987 Scalp-ear-nipple syndrome – autosomal dominant; aplasia cutis congenita of the scalp, irregularly shaped pinna, hypoplastic nipple, widely spaced teeth, partial syndactyly Am J Med Genet 50:247-250, 1994 Sclerosteosis Ann Intern Med 84:393-397, 1976 Short rib-polydactyly syndrome Am J Roentgenol 114:257-263, 1972 Smith-Lemli-Opitz syndrome – autosomal recessive; occasional immunodeficiency; hypospadias, cryptorchidism, hypospadias partial syndactyly of 2nd and 3rd toes, polydactyly, dysmorphic facies with anteverted nostrils, cleft palate, congenital heart disease, severe photosensitivity, 7-dehydrocholesterol reductase deficiency (defect in cholesterol metabolism) BJD 153:774-779, 2005; NEJM 351;2319-2326, 2004; JAAD 41:121-123, 1999; BJD 141:406-414, 1999; Am J Med Genet 66:378-398, 1996; Clin Pediatr 16:665-668, 1977; J Pediatr 64:210-217, 1964 Symphalangism-brachydactyly syndrome with conductive hearing impairment Syndactyly, congenital Caputo p.172, 2000 Townes-Brocks syndrome J Pediatr 81:321-326, 1972 Trauma BJD 152:1083-1084, 2005 Triploidy syndrome Syndromes of the Head and Neck, p.64, 1990 Trisomy 13 (Patau) syndrome J Genet Hum 23:83-109, 1975 Varadi syndrome (polydactyly, cleft lip/palate, lingual lump, cerebellar anomalies J Med Genet 17:119-122, 1980 Waardenburg syndrome, type 3 Bolognia p.930, 2003 Zlotogora-Ogur syndrome – ectodermal dysplasia, syndactyly, mental retardation, autosomal recessive J Med Genet 24:291-293, 1987

AD 128:1378-1386, 1992 Apert’s syndrome Cranioectodermal dysplasia Craniosynostosis syndromes