Rare Diseases Symptoms Automatic Extraction

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 COL7A1 mutations were identified.

Diseases presenting "affected members in" symptom

  • dystrophic epidermolysis bullosa

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