Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes

Abstract

Epidermolysis bullosa (EB) encompasses a phenotypically and genetically heterogeneous group of inherited skin disorders characterized by blistering and erosions of the skin with minimal trauma. Dystrophic EB (DEB), both dominant and recessive, can be associated with several extracutaneous manifestations, including musculoskeletal deformities. Congenital deformities of the feet have rarely been reported in the literature. We describe an infant with dominant DEB and congenital absence of the skin who presented with congenital brachydactyly of the bilateral great toes.

Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex

“…In the literature, a patient with dominant dystrophic EB with a COL7A1 variant had complications with hypoplasia of the distal phalanx of the left first toe and proximal phalanx of the right first toe as well as mild hypoplasia of the second through fifth digits. 2 Two patients with autosomal recessive EBS had marked growth retardation. 3 Two siblings with localized junctional EB were reported to have associated tooth enamel defects, dystrophic toenails, and mental retardation.…”