Blistering Skin Disorders

Signs and Symptoms

Epidermolysis bullosa simplex can be seen both as a localized or generalized variant. When localized, it affects the palms and soles, and usually presents in adolescence or early adulthood. It may not manifest until the skin is subjected to a high degree of friction, such as with athletic or military training. Excessive sweating often is present.

Generalized epidermolysis bullosa simplex usually occurs at birth or in early infancy, with blisters most commonly on the hands, feet, and extremities. Blisters can be seen in areas subjected to friction, especially when the child begins to crawl and becomes more active. Heat and trauma can exacerbate the disorder. The condition usually improves at puberty.

Junctional EB presents at birth. Its most severe form (Herlitz variant) can be fatal. While some patients survive to adulthood, 50% die before the age of 2. Blisters and erosions (unroofed blisters) are seen on the skin and oral mucous membranes. There can be stomach problems, distinct involvement of the cuticles and fingertips, occasionally leading to loss of the nails, and the teeth may be abnormal. Those affected typically are severely stunted in growth.

In nonlethal junctional EB, blistering is seen at birth. Involvement of the nails may be present as well. While mucous membrane involvement can be seen, it is usually mild. Normal growth and life span are expected.

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Dystrophic EB can be seen in both a recessive or dominant form; the dominant form is less severe. In the dominant form, blisters generally appear at or shortly after birth. Growth is unaffected and there is little or no involvement of the hair and teeth. The disease tends to improve with age, and scarring is much less severe. Mild mucous membrane involvement is seen in 20% of patients. The nails usually are thickened and sometimes absent.

In the recessive variant, most blisters occur at the site of trauma or pressure. There is widespread severe scarring and deformities, as well as extensive mucous membrane involvement. The areas of most severe disease include the hands, feet, elbows, and knees. With repeated blistering, thickened scar tissue forms and causes contractures of the joints that restrict mobility. The fingers and toes may be bound together in mitten- or socklike sacs. This form also causes retarded growth and development, with abnormalities of the teeth and hair. The eyes often are affected, as well as the vocal cords, resulting in hoarseness or difficulty speaking. The teeth often are deformed and susceptible to severe cavity formation. Complications from this disease range from poor nutrition to secondary infections of the open areas to problems with urination.

Acquired epidermolysis bullosa (EB acquisita) occurs in adulthood and is characterized by blisters on the hands and feet, as well as the elbows, knees, and ears. Scarring is common, as is mucous membrane involvement. The teeth are unaffected.

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