Epidermolysis bullosa pruriginosa: further clarification of the phenotype.

[dystrophic epidermolysis bullosa]

A defect in type VII collagen causes dystrophic epidermolysis bullosa (DEB ). The pruriginosa variant (DEB-Pr ) is unique because its initial presentation may be delayed until adolescence or adulthood , and its predominant feature is scarring and pruritus without the characteristic skin fragility of DEB . We describe three families with multiple affected members in which DEB-Pr shows an autosomal-dominant inheritance pattern . All affected individuals were examined , and three previously unreported COL 7 A 1 mutations were identified .

Diseases
Validation

Diseases presenting "pruritus without the characteristic skin fragility of deb" symptom

dystrophic epidermolysis bullosa

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