| A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. |
