Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors

J Am Acad Dermatol. 2016 Mar;74(3):437-51; quiz 452-4. doi: 10.1016/j.jaad.2015.08.073.

Abstract

Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Many of the syndromes are also associated with extracutaneous manifestations, including internal malignancies; therefore, most require a multidisciplinary management approach with a medical geneticist. Finally, dermatologists play a critical role in the diagnosis and management of these conditions, because cutaneous findings are often the presenting manifestations of disease.

Keywords: Bloom syndrome; Gorlin syndrome; Muir–Torre syndrome; Rothmund–Thomson syndrome; Werner syndrome; dyskeratosis congenita; genetic testing; nonmelanoma skin cancer; oculocutaneous albinism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Basal Cell / diagnosis
  • Carcinoma, Basal Cell / epidemiology
  • Carcinoma, Basal Cell / therapy
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / epidemiology
  • Carcinoma, Squamous Cell / therapy
  • Decision Trees
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / epidemiology*
  • Neoplastic Syndromes, Hereditary / therapy
  • Risk
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / epidemiology*
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / therapy