p.Glu477Lys mutation in keratin 5 is not necessarily mortal in generalized severe epidermolysis bullosa simplex

Dear Editor, Generalized severe epidermolysis bullosa simplex (GS-EBS) is a rare and severe subtype of EBS. Among GS-EBS, the p.Glu477Lys mutation in KRT5 is strongly associated with mortality. Here, we report our familial case of GS-EBS harboring KRT5 p.Glu477Lys mutation without fatal complications. A Japanese girl was born at 37 weeks’ gestation as a result of artificial insemination. The infant’s Apgar scores were 9 at 1 min and 10 at 5 min. Her birthweight was 2260 g and head circumference was 32.5 cm. She had blisters on the extremities, lower abdomen and the back at birth (Fig. 1a). Aphthae and blisters were also observed in the oral mucosa.