Epidermolysis Bullosa Simplex, Autosomal Recessive K14

Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

Epidemiology

Prevalence is unknown but 19 cases have been reported to date.

Clinical description

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.

Etiology

EBS-AR KRT14 is due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14.

Genetic counseling

Transmission is autosomal recessive.

Prognosis

The disease is frequently associated with significant morbidity, but life-expectancy is normal.