Definition of Dystrophic epidermolysis bullosa

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Dystrophic epidermolysis bullosa: A blistering skin condition inherited in both autosomal dominant and recessive manners and in which the filaments that anchor the epidermis to the underlying dermis are either absent or do not function. This is due to defects in the gene for type VII collagen, a fibrous protein that is the main component of the anchoring filaments.

The dominant and recessive inherited forms of dystrophic epidermolysis bullosa (DEB) have slightly different symptoms. In some dominant and mild recessive forms, blisters may appear only on the hands, feet, elbows, and knees; nails usually are shaped differently; milia may appear on the skin of the trunk and limbs; and there may be involvement of the soft tissues, especially the esophagus.

The more severe recessive form of DEB is characterized by blisters over large body surfaces, loss of nails or rough or thick nails, atrophic scarring, milia, itching, anemia, and growth retardation. Severe forms of recessive DEB also may lead to serious eye inflammation with erosion of the cornea, early loss of teeth due to decay, and blistering and scarring inside the mouth and gastrointestinal tract. In most people with this form of DEB, some or all the fingers or toes may fuse (pseudosyndactyly). Also, individuals with recessive dystrophic epidermolysis bullosa have a high risk of developing a form of skin cancer called squamous cell carcinoma. It primarily occurs on the hands and feet. The cancer may begin as early as the teenage years. It tends to grow and spread faster in people with EB than in those without the disease. See also: Epidermolysis bullosa.