| A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). Transmission is autosomal recessive. |
