Aplasia cutis congénita asociada a epidermólisis ampollosa

Abstract

ACC associated with epidermolysis bullosa is one of the rarer forms of presentation. It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow.

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

“…We reviewed the full text and references of 47 articles, and included 8 additional articles, for a total of 55 articles included in this review (Figure 1). 3,4,6‐58 Most were single or small case series of up to 6 patients, with an additional article by Chiaverini et al 39 reporting on 21 patients in whom gene testing was performed.…”

“…Twenty‐nine patients presented with extracutaneous features. The most common findings were pyloric atresia 15,22,24,35,36,41,42,44‐47,49,50,52,54,55 (affecting 10 patients with JEB with pyloric atresia, 2 with dominant DEB, 2 with DEB not specifying the subtype, and 3 additional patients where the type of EB was not specified), ear malformations, 9,15,24,28,41,45‐50,54,55 and skeletal defects 9,28,37,41,47‐50,58 . Additional findings are shown in Table 3.…”