Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis

Am J Med Genet A. 2023 Mar;191(3):899-901. doi: 10.1002/ajmg.a.63058. Epub 2022 Nov 30.

Abstract

Sarcoidosis is a chronic granulomatous disorder affecting the lungs, skin, and many other organs. Twin studies suggest that genetic factors account, to a large degree, for the etiology of the disorder. Hence, theoretically, we could postulate that the phenomenon of superimposed mosaicism in the form of a pronounced segmental involvement, overlaying the disseminated non-segmental lesions, should also occur in sarcoidosis. Indeed, one case suggesting superimposed mosaicism in cutaneous sarcoidosis was found in the literature and is reassessed here.

Keywords: cutaneous sarcoidosis; flag-like pattern; polygenic disorder; segmental manifestation; superimposed mosaicism; twin studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mosaicism
  • Sarcoidosis* / diagnosis
  • Sarcoidosis* / genetics
  • Skin / pathology
  • Skin Diseases* / diagnosis
  • Skin Diseases* / genetics
  • Skin Diseases* / pathology
  • Skin Diseases, Genetic* / diagnosis
  • Skin Diseases, Genetic* / genetics
  • Skin Diseases, Genetic* / pathology