Overview of familial syndromes with increased skin malignancies

Arch Dermatol Res. 2023 May;315(4):707-727. doi: 10.1007/s00403-022-02447-8. Epub 2022 Nov 7.

Abstract

The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte carcinomas include basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Multiple familial syndromes have been identified that can increase the risk of developing SCC, BCC, and/or melanoma. The major syndromes include oculocutaneous albinism for SCC, basal cell nevus syndrome for BCC, familial atypical multiple mole-melanoma syndrome, and hereditary breast and ovarian cancer syndrome for melanoma. In addition, familial syndromes that can predispose individuals to all three major skin cancers include xeroderma pigmentosum and Li-Fraumeni syndrome. This review highlights the epidemiology, risk factors, pathogenesis, and etiology of the major and minor syndromes to better identify and manage these conditions. Current investigational trials in genomic medicine are making their way in revolutionizing the clinical diagnosis of these familial syndromes for earlier preventative measures and improvement of long-term prognosis in these patients.

Keywords: Familial syndrome; Melanoma; Nonmelanoma skin cancer.

Publication types

  • Review

MeSH terms

  • Carcinoma, Basal Cell* / diagnosis
  • Carcinoma, Basal Cell* / epidemiology
  • Carcinoma, Basal Cell* / genetics
  • Carcinoma, Squamous Cell* / diagnosis
  • Carcinoma, Squamous Cell* / epidemiology
  • Carcinoma, Squamous Cell* / etiology
  • Dysplastic Nevus Syndrome* / complications
  • Humans
  • Melanoma* / diagnosis
  • Melanoma* / epidemiology
  • Melanoma* / genetics
  • Risk Factors
  • Skin Neoplasms* / diagnosis
  • Skin Neoplasms* / epidemiology
  • Skin Neoplasms* / genetics