Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype
Copyright policy )Epidermolysis Bullosa Pruriginosa: Further Clarification of the Phenotype
Abstract: 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 unreportedCOL7A1mutations were identified.
- Medical College of Wisconsin United States
- Mayo Clinic United States
- Oregon Health & Science University United States
Adult, Family Health, Male, Collagen Type VII, Adolescent, Epidermolysis Bullosa Dystrophica, Pedigree, Nail Diseases, Phenotype, Hyperpigmentation, Child, Preschool, Humans, Female, Epidermolysis Bullosa, Genes, Dominant, Skin
Adult, Family Health, Male, Collagen Type VII, Adolescent, Epidermolysis Bullosa Dystrophica, Pedigree, Nail Diseases, Phenotype, Hyperpigmentation, Child, Preschool, Humans, Female, Epidermolysis Bullosa, Genes, Dominant, Skin
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