Epidermolysis bullosa with congenital absence of skin: Review of the literature

Abstract

In 1966, Bart et al 1 described 20 members of a family with CAS affecting the lower extremities, blistering of the skin and mucous membranes, and nail abnormalities. This association of EB and CAS came to be known as Bart's syndrome (BS). At the time of the first report, the subtypes of EB were not classified because ultrastructural and immunochemical studies were not available. Years later, Zelickson et al 2 performed ultrastructural studies on the initial cases, demonstrating findings of dominant dystrophic epidermolysis

Congenital absence of the skin secondary to the self-improving subtype of dystrophic epidermolysis bullosa with recurrent lesions throughout early childhood

“…Unilateral CAS accounts for a minority of CAS cases of EB, with most cases presenting bilaterally. 6 The often-cited mechanism for CAS in EB is trauma of sensitive skin caused by crossing of the legs of the fetus in utero. 6 Genetic causes have also been hypothesized; there is an association between the specific location of missense mutations in COL7A1 and CAS phenotype 3 and the higher odds of CAS in recessively inherited SI-DEB.…”

“…6 Similar to the blistering in SI-DEB, CAS generally heals by the end of infancy. 6 In this report, we describe an unusual case of EB with CAS secondary to SI-DEB with recurrent blisters throughout early childhood. We also review the few cases in the literature of SI-DEB failing to resolve during infancy.…”

“…4 Congenital absence of the skin (CAS), or aplasia cutis congenita, is a clinical sign associated with many subtypes of EB. 3,6,7 Formerly known as aplasia cutis congenita type VI or Bart syndrome, EB with CAS typically presents at birth, with large areas of aplasia cutis on the bilateral dorsal aspect of the feet and legs, although upper extremity and trunk involvement has also been reported. 6 The specific mechanism of CAS in EB is not known, but in utero friction is the most cited hypothesis.…”

“…3,6,7 Formerly known as aplasia cutis congenita type VI or Bart syndrome, EB with CAS typically presents at birth, with large areas of aplasia cutis on the bilateral dorsal aspect of the feet and legs, although upper extremity and trunk involvement has also been reported. 6 The specific mechanism of CAS in EB is not known, but in utero friction is the most cited hypothesis. 6 Similar to the blistering in SI-DEB, CAS generally heals by the end of infancy.…”

“…6 The specific mechanism of CAS in EB is not known, but in utero friction is the most cited hypothesis. 6 Similar to the blistering in SI-DEB, CAS generally heals by the end of infancy. 6 In this report, we describe an unusual case of EB with CAS secondary to SI-DEB with recurrent blisters throughout early childhood.…”