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Weber–Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits
Author(s) -
Chiang YY.,
Chao SC.,
Chen WY.,
Lee WR.,
Wang KH.
Publication year - 2008
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2008.08801.x
Subject(s) - epidermolysis bullosa simplex , dermatology , epidermolysis bullosa , medicine , library science , computer science
Epidermolysis bullosa simplex (EBS) encompasses a group of hereditary bullous diseases characterized by intraepidermal blister formation caused by mutations of keratin 5 (KRT5) or keratin 14 (KRT14) genes. Weber–Cockayne (EBS-WC: OMIM 131800) is the most common type, which is characterized by localized formation of blisters and is usually confined to the acral ⁄ friction area. We report a patient with EBS-WC with a novel mutation in KRT5 (Val to Ala) at position 324. Interestingly, globules of amyloid deposition were identified in the papillary dermis; this has never previously been reported in a patient with EBS.