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

Erika Sawka, Tracy Funk

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1251-1254
Number of pages4
JournalPediatric dermatology
Volume38
Issue number5
DOIs
StatePublished - Sep 1 2021
Externally publishedYes

Keywords

  • brachydactyly
  • dermatology
  • epidermolysis bullosa
  • epidermolysis bullosa dystrophica
  • musculoskeletal abnormalities

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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