An 8-year-old EBS patient (referred to as EBS01) suffered from a de novo heterozygous dominant mutation (c.475/495del21) within exon 1 of KRT14. The patient developed bullous skin lesions few months after birth and currently presents blisters in the palmoplantar region causing postural and ambulation problems. Here, KRT14 is linked to epidermolysis bullosa simplex.