Hereditary Tumor Syndromes with Skin Involvement

Dermatol Clin. 2019 Oct;37(4):607-613. doi: 10.1016/j.det.2019.05.016. Epub 2019 Jul 30.

Abstract

Cutaneous findings that appear in childhood may be the first sign of a hereditary tumor syndrome. Early detection of genodermatoses allows the patient and at-risk family members to be screened for associated malignancies. This article provides a brief description of the pathogenesis and clinical manifestations of various inherited disorders with skin involvement, along with treatment updates. Advances in molecular-based therapy have spurred development of novel treatment methods for various genodermatoses such as xeroderma pigmentosum (XP) and Gorlin-Goltz syndrome. Further studies are needed to better assess the efficacy of many of these new treatment options.

Keywords: Genodermatoses; Gorlin-Goltz syndrome; Hereditary tumor syndrome; Xeroderma pigmentosum.

Publication types

  • Review

MeSH terms

  • DNA Repair / genetics
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / therapy
  • Primary Immunodeficiency Diseases / genetics
  • Signal Transduction / genetics
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / genetics
  • Skin Diseases, Genetic / therapy
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics
  • Skin Neoplasms / therapy