Article
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.
The British journal of dermatology - 1 Jan 2001
Irvine A D, Rugg E L, Lane E B, Hoare S, Peret C, Hughes A E, Heagerty A H
Abstract excerpt
BACKGROUND: A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (EBS-MP), was initially characterized in a Swedish family in 1979, and seven further families have been reported. Features of EBS-MP that are observed in most affected patients include acral blistering early in childhood, mottled pigmentation distributed in a number of sites, focal punctate...
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