由角蛋白5 p.E477K突变引起的全身性重度单纯性大疱性表皮松解症。
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
作者信息
Sheppard Sarah E, Anderson Laura Elizabeth, Sibbald Cathryn, Cotton Colleen, Bhoj Elizabeth, Perman Marissa J, Castelo-Soccio Leslie
机构信息
Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
出版信息
Pediatr Dermatol. 2019 Nov;36(6):1007-1009. doi: 10.1111/pde.13965. Epub 2019 Oct 3.
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.
单纯性大疱性表皮松解症（EBS）是一种由于表皮结构蛋白突变引起的皮肤脆性疾病。我们简要报告了一名因角蛋白5（KRT5）基因c.1429G>A（p.E477K）突变而患有EBS的母亲的长期生存和生育情况，该突变导致了一种特别严重的疾病形式。
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