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 "scarring" symptom

acute rheumatic fever

cutaneous mastocytosis

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erythropoietic protoporphyria

focal myositis

junctional epidermolysis bullosa

kindler syndrome

malignant atrophic papulosis

oral submucous fibrosis

papillon-lefèvre syndrome

primary hyperoxaluria type 1

proteus syndrome

This symptom has already been validated