A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling–Meara
✍ Scribed by XL Li; SX Xiao; ZH Peng; Y Liu; M Pan; SN Zhou
- Book ID
- 111094953
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 139 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0926-9959
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## SUMMARY Epidermolysis bullosa simplex (EBS) is a blistering disorder affecting the basal layer of the epidermis usually inherited in an autosomal dominant fashion. Most cases are caused by mutations in the genes encoding keratin 5 (K5) and keratin 14 (K14) and are characterized by cytolysis with
The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EB). Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed