The Clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa

Distrophic epidermolysis bullosa pruriginosa(DEB-Pr, OMIM#604129) is a rare subtype of epidermolysis bullosa dystrophica. It is characterized by recurrent vesicles and erosions on the extensor of the limbs at birth or shortly thereafter and pruriginosa papules and nodules accompanied with intense itching and nail dystrophy in adult stage¹. Histology reveals hyperkeratosis, mild acanthosis and a subepidermal blister formation². Electron microscopic studies showed alterations in the number and ultrastructure of anchoring fibrils in lesional, perilesional and non-lesional skin³.Previous studies have revealed that DEB-Pr is due to mutations in the COL7A1 gene located on chromosome 3p21 region, which encodes the collagen VII^2,4.

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