|
|||||
|
|
Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation |
|
| Authors: | Sarah E Sheppard Laura Elizabeth Anderson Cathryn Sibbald Colleen Cotton Elizabeth Bhoj Marissa J Perman Leslie Castelo‐Soccio |
| Abstract: | 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. |
| Keywords: | epidermolysis bullosa epidermolysis bullosa simplex keratin 5 keratoconus |