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