Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalised dystrophic epidermolysis bullosa.

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.