Desmosomes in disease: a guide for clinicians

Oral Dis. 2017 Mar;23(2):157-167. doi: 10.1111/odi.12527. Epub 2016 Jul 19.

Abstract

The large number of diseases occurring when desmosome constituents are impaired provides striking evidence for the key role of desmosomes in maintaining tissue integrity. A detailed understanding of the molecular alterations causing desmosomal dysfunction has, in turn, underpinned the development of novel diagnostic tools. This has salient clinical implications for dentists and oral medicine practitioners because the majority of desmosomal diseases affect the oral cavity. In the present article, we review the autoimmune, infectious, genetic, and neoplastic diseases that target the desmosome, with particular emphasis on clinical manifestations, diagnostic pathways, and relevant laboratory investigations.

Keywords: blistering diseases; desmosome; pemphigus.

Publication types

  • Review

MeSH terms

  • Autoantibodies / blood*
  • Desmoglein 1 / immunology
  • Desmoglein 2 / immunology
  • Desmosomes / genetics
  • Desmosomes / immunology*
  • Desmosomes / metabolism*
  • Genetic Diseases, Inborn / complications
  • Humans
  • Infections / complications
  • Mouth Diseases / diagnosis*
  • Mouth Diseases / etiology*
  • Pemphigus / complications
  • Pemphigus / diagnosis
  • Pemphigus / immunology*

Substances

  • Autoantibodies
  • Desmoglein 1
  • Desmoglein 2