Keywords

Cancer, Cutaneous Findings, Familial Syndromes, Genodermatoses, Inheritance

 

Authors

  1. Goldenberg, Alina
  2. Jacob, Sharon E.

Abstract

ABSTRACT: Familial hereditary cancer syndromes are a group of rare disorders affecting both children and adults. Many of these syndromes are characterized by prominent cutaneous findings, which may help alert clinicians to possible underlying malignancies. Early detection and treatment of these conditions are vital for cancer prevention; thus, clinician knowledge and awareness of the common cutaneous findings is essential. The syndromes may be grouped by their modes of inheritance-autosomal or X-linked and dominant or recessive-as well as by the category of genetic mutation-DNA repair, signaling pathway, immunodeficiency, or other defects. Herein, we present a summary of general principles of inheritance and an overview of the genetic defects, modes of inheritance, and the dermatologic manifestations of 42 distinctive hereditary neoplastic syndromes to help promote awareness and enhance early diagnosis.