Review of genodermatoses with characteristic histopathology and potential diagnostic delay

J Cutan Pathol. 2019 Oct;46(10):756-765. doi: 10.1111/cup.13520. Epub 2019 Jun 27.

Abstract

Advances in human genetics have enabled discovery of new genes for inherited skin diseases and cutaneous malformations as well as refined categorization of genodermatoses. Careful phenotyping has been central to genetic discoveries, and it provides critical clues for clinical diagnoses, particularly when the skin disorder is not congenital. This article will review several lesser-known genodermatoses that often present after infancy with recognizable histopathologic features.

Keywords: genetic; genodermatosis; psoriasiform; stiff skin syndrome; verruciform xanthoma.

Publication types

  • Review

MeSH terms

  • Delayed Diagnosis*
  • Humans
  • Skin Diseases / complications*
  • Skin Diseases / diagnosis*
  • Skin Diseases / pathology*