ABSTRACT
Erosions and ulcerations of the skin are found in a variety of congenital skin disorders. Ulceration may be the initial clinical presentation leading to the consideration and diagnosis of a genetic disease, or it may be a secondary manifestation of an established genetic disorder (1–3). Erosions and/or ulcerations may be a manifestation of a congenital absence of the skin, incompetent barrier function from defective adhesion proteins between keratinocytes, unusual sensitivity to frictional trauma due to basement membrane protein defects, a result of self-mutilation, a secondary manifestation of an inability to sense cutaneous injuries, secondary to vesicle or bullae formation, or a predisposition to recurrent bacterial infections (Table 1) (4–7). Treatment of these skin ulcers is often a chronic process, with particular attention to localized wound care, prevention of secondary infection, along with appropriate treatment of the underlying condition (7). Other unique considerations include working with appropriate genetic counselors and with the child’s parents and caretakers about the disorder and allowing for participation in the wound care of the child if possible. Features of Genetic Disorders Associated with Erosions or Ulceration
Disorder
Inheritance
Clinical features of ulcers
Other clinical manifestations
Acro-osteolysis
Autosomal dominant
Recurrent ulcers of the fingers, toe, palms, and soles with eventual loss of the digits
Progressive osteolysis of the phalangtes, and higher incidence of osteomyelitis
Aplasia cutis congenita
Sporadic, autosomal dominant and recessive
Congenital localized absences of the epidermis, dermis, and subcutaneous tissue. Ulcers are sharply defined, and often are on the midline scalp
Possible underlying skeletal defects
Chediak–Higashi syndrome
Autosomal recessive
Staphylococcus aureus leg ulcers
Recurrent bacterial infections. Slate-gray skin, and light blond hair with a silver sheen Photophobia, strabismus Recurrent sinusitis, and pneumonia Progressive neurological deterioration
Congenital hemolytic anemias
Variable
Intractable ischemic irregularly shaped lower extremity ulcers
Hemolytic anemia
Congenital indifference to pain
Ulcers on the extremities secondary to unappreciated trauma
Muted pain sensation with or without autonomic dysfunction
Congenital localized absence of skin
Autosomal dominant
Congenital ulcers in the legs, ankles, and feet. Ulcers are mildly depressed with a glistening moist base
Onychogryphosis, or complete absence of nails. Trauma induced blistering of the extremities, and mucous membrances
Cutis marmorata telangiectatica congenita
Sporadic
Reticular vascular pattern with a marbled skin appearance, with rare epidermal atrophy and ulceration
Limb hemiatrophy Glaucoma Mental deficits
Epiderolysis bullosa
Variable
Blisters, erosions, and ulcers on trauma prone areas, with varying degrees of scarring
Variable digital fusion and joint contracture Recurrent skin infections
Familial dysautonomia/Riley–Day syndrome
Autosomal recessive
Burns and ulceration of the hands and feet due to unrecognized injury. Self-mutilation
Blotching and mottling of the skin. Increased sweating and drooling
Flynna–Aird syndrome
Autosomal dominant
Scleroderma-like atrophy of the skin with ulceration
Nerve deafness; ocular anomalies;cerebral deficits
Focal dermal hypoplasia
X-linked dominant
Ulceration at sites of congenital absence of skin, with reddish yellow outpouching of the skin
Sparse hair, short stature. Scoliosis, syndactyly, lobster-claw deformity Osteopathia striata
Hailey–Hailey disease
Autosomal dominant
Erosions on an erythematous base involving the axial, groin, and intertriginous areas
Homocystinuria
Autosomal recessive
Ulceration involving the legs
Malar rash; deep venous thrombosis;osteoporosis; mental deficits and seizures
Ichithyosis
Variable
Shallow erosions and ulcerations associated with ichthyosis
Klinefelter syndrome
X-chromosome aneuploidy
Large bilateral leg ulcers associated with varicose veins, and arterial insufficiency
Tall stature, obesity. Gynecomastia, small testes, infertility
Langerhans cell histiocytosis
Sporadic
Ulcerated nodules and plagues involving the flexural ureas in infancy
Seborrheic eruption of the scalp and flexural areas. Fever, anemia, thrombocytopenia. Adenopathy, hepatosplenomegaly Increased malignancies and high mortality
Lesch–Nyhan syndrome
X-linked
Mutilation and ulceration of the lips, face, fingers, and wrists due to compulsive self-destructive behavior
Disrupted uric acid metabolism. Mental retardation, spastic cerebral palsy
Porphyria
Variable
Bullae, erosions, and shallow ulcers on sun-exposed areas, presenting at variable ages depending on sub-type
Disturbed porphyrin metabolism
Werner syndrome
Autosomal recessive
Indolent ulcers on pressure points, especially the ankles and soles
Generalized vascular disease. Loss of subcutaneous tissue, muscle wasting. Cataracts, and malignancy
Xeroderma pigmentosa
Autosomal recessive
Photodistributed erythema and vesiculation in early childhood, with ulcers and neoplasm in adolescence
Very high incidence of squamous and basal cell carcinoma, as well as melanoma