A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex

We describe a novel homozygous KRT14 (also known as K14) mutation detected in a patient with a relatively mild form of epidermolysis bullosa simplex (EBS). Our patient harbours loss of function of both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.

Automated summary

We report a novel homozygous KRT14 mutation in a patient with a mild form of epidermolysis bullosa simplex (EBS). The patient has loss of function in both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.