Epidermolysis Bullosa

September 14, 2005
Gerald Muthu, MD

A 40-year-old woman presented for follow-up of a generalized skin condition that was most severe on her palms and soles. She had been born with a few lesions, which resolved in infancy. New lesions began to emerge and increase in number and severity when she was 2 years old; they have recurred intermittently for 38 years.

A 40-year-old woman presented for follow-up of a generalized skin condition that was most severe on her palms and soles. She had been born with a few lesions, which resolved in infancy. New lesions began to emerge and increase in number and severity when she was 2 years old; they have recurred intermittently for 38 years.

There is no family history of similar problems, but the patient's 5-year-old daughter was born with the same type of skin lesions.

The lesions caused severe scarring with contractures, rendering the patient's hands almost useless. Severe nail dystrophy also was present. Flexural contractures were noted. A skin biopsy confirmed the diagnosis of dystrophic epidermolysis bullosa.

Dr Gerald Muthu of Casa Grande, Ariz, writes that epidermolysis bullosa may present in either the simplex or dystrophic form. Each form can have either dominant or recessive inheritance. The simplex form is characterized by intraepidermal blisters and is nonscarring.

Dystrophic epidermolysis bullosa features subepidermal bulla associated with scarring and dystrophic nails. Blisters are usually localized to the extremities and areas of increased trauma. Flexural contractures are present. Collagenolysis and blister formation may result from excessive amounts of structurally abnormal collagenase from fibroblasts.

Persons with dystrophic epidermolysis bullosa are at increased risk for squamous cell carcinoma with a high incidence of fatal metastases. Fetoscopic examination and skin biopsy can aid in the prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Treatment is mainly supportive. Oral phenytoin can decrease the average number of blisters and sites of erosion by 40%. Other drugs, including retinoids, chloroquine, vitamin E, and corticosteroids, have been investigated.

A trial of phenytoin was given to this patient; the agent was discontinued because of side effects, including dizziness and ataxia