Genodermatoses with malignant potential

Clin Dermatol. 2020 Jul-Aug;38(4):432-454. doi: 10.1016/j.clindermatol.2020.03.007. Epub 2020 Mar 30.

Abstract

The hereditary nature of some forms of cancer was recognized long ago. Over time, recognition of associated findings led to the delineation of numerous hereditary cancer syndromes. Many of these syndromes also have cutaneous manifestations, the recognition of which can lead to their early identification. Recognition of these syndromes allows vigilant surveillance and preemptive treatment, which can dramatically impact the risks of morbidity and mortality for affected patients. The rise of rapid and accurate genetic testing now allows the early identification of asymptomatic at risk family members so that monitoring can be initiated as early as possible. The dermatologist plays a critical role in early identification of these syndromes and, in many cases, their treatment. This review summarizes many known hereditary cancer syndromes with cutaneous findings, their etiology, identification, evaluation, and management. Importantly, this is an ever evolving topic and new findings and syndromes will continue to be recognized. The dermatologist must be always alert to ensure they are detected.

Publication types

  • Review

MeSH terms

  • Basal Cell Nevus Syndrome
  • Birt-Hogg-Dube Syndrome
  • Carney Complex
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • Early Diagnosis
  • Female
  • Gardner Syndrome
  • Genetic Testing
  • Hamartoma Syndrome, Multiple
  • Humans
  • Male
  • Multiple Endocrine Neoplasia
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics
  • Neoplastic Syndromes, Hereditary* / pathology
  • Neoplastic Syndromes, Hereditary* / therapy
  • Neurofibromatoses
  • Skin / pathology
  • Skin Diseases, Genetic* / diagnosis
  • Skin Diseases, Genetic* / genetics
  • Skin Diseases, Genetic* / pathology
  • Skin Diseases, Genetic* / therapy