ABSTRACT
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 Endocrinologie 26:205-209, 1988 Lipoid proteinosis – rugose forehead BJD 151:413-423, 2004; JID 120:345-350, 2003; BJD 148:180-182, 2003; Hum Molec Genet 11:833-840, 2002 Localized familial redundant scalp Clin Exp Dermatol 17:349-350, 1992 Localized lipomatous hypertrophy with microcephaly, mental retardation, and deletion of short arm of chromosome 11 AD 116:622, 1980; AD 115:978-979, 1979 Michelin tire baby syndrome – either nevus lipomatosis or diffuse smooth muscle hamartoma; excessive folds of firm skin on extremities, especially ankles and wrists; generalized hypertrichosis, palmar cerebriform plaques Ped Derm 22:245-249, 2005; Ped Derm 6:329-331, 1989; diffuse lipomatous hypertrophy AD 100:320-323, 1969 Mucopolysaccharidoses (Hurler’s, Hurler-Schei, Sanfilippo, Morquio, Maroteaux-Lamy, Sly syndromes) Rook p.2624-2625, 1998, Sixth Edition Neurofibromatosis – rugose and plexiform neurofibromas JAAD 52:191-195, 2005 Noonan’s syndrome – cutis verticis gyrata Ped Derm 22:142-146, 2005 Pachydermoperiostosis (Touraine-Solente-Gole syndrome) Syndromes of the Head and Neck, p.281-285, 1990 Patterson-David syndrome – redundant skin, hypertrichosis Birth Defects 5:117-121, 1969 Patau’s syndrome (trisomy 13) – loose skin of posterior neck, parieto-occipital scalp defects, abnormal helices, low-set ears, simian crease of hand, hyperconvex narrow nails, polydactyly Ped Derm 22:270-275, 2005; Rook p.3016, 1998, Sixth Edition Proteus syndrome Pseudoxanthoma elasticum – linear and reticulated cobblestoned yellow papules and plaques AD 124:1559, 1988; JAAD 42:324-328, 2000; Dermatology 199:3-7, 1999; PXE and acrosclerosis Proc Roy Soc Med 70:567-570, 1977; penicillamine-induced pseudoxanthoma elasticum JAAD 30:103-107, 1994; Dermatology 184:12-18, 1992; saltpetreinduced pseudoxanthoma elasticum Acta DV 58:323-327, 1978 Shulman’s syndrome – rippled skin Soto’s syndrome Turner’s syndrome – neonatal cutis verticis gyrata Ped Derm 15:18-22, 1998 Williams syndrome – premature laxity of skin, congenital heart disease (supravalvular aortic stenosis), baggy eyes, full cheeks, prominent lips, dental malocclusion, delayed motor skills, cocktail party personality J Pediatr 113:318-326, 1988
