Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Nail dystrophy, a well-recognized feature of dystrophic epidermolysis bullosa (EB), is usually accompanied by skin fragility. We present a three-generation family with an autosomal dominant history of dystrophic nails, but without skin fragility or trauma-induced blisters. No specific diagnosis had been made. However, in the fourth generation, an infant presented with nail dystrophy, acral blistering and milia, raising the possibility of dominant dystrophic EB. This was confirmed by mutational analysis of the type VII collagen gene, COL7A1. We identified a glycine substitution mutation, G1776A, in exon 61 of COL7A1, characteristic of dominant dystrophic EB, which segregated with nail dystrophy in this family. A diagnosis of dominant dystrophic EB should be considered in families with autosomal dominant nail dystrophy even when there is no history of blistering.
Department of Dermatology, Walsgrave Hospital, Coventry, UK.
B
B
Dharma
C
C
Moss
J A
JA
McGrath
J E
JE
Mellerio
A
A
Ilchyshyn
D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009260:Nail Diseases / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
D003094:Collagen