Acral Dystrophic Epidermolysis Bullosa

A very rare dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.

Epidemiology

Less than 20 families or sporadic cases have been reported to date.

Clinical description

The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.

Etiology

Acral DEB is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.

Genetic counseling

Transmission is autosomal dominant (acral DDEB) or autosomal recessive (acral RDEB).