Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterised by trauma-induced blister formation beneath the lamina densa in the papillary dermis. Other clinical findings include atrophic scarring, milia formation, fusion of digits, nail dystrophy and contractures(1) . DEB comprises 13 variants with different mucocutaneous involvement.
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa.
Ritelli M;Chiarelli N;Venturini M;Calzavara-Pinton P;Colombi M.
2012-01-01
Abstract
Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterised by trauma-induced blister formation beneath the lamina densa in the papillary dermis. Other clinical findings include atrophic scarring, milia formation, fusion of digits, nail dystrophy and contractures(1) . DEB comprises 13 variants with different mucocutaneous involvement.File in questo prodotto:
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