Hereditary Tumor Syndromes with Skin Involvement

• Published in: Dermatologic clinics Vol. 37; no. 4; pp. 607 - 613
• Main Authors: Hamid, Ramiz N., MD, MPH, Akkurt, Zeynep M., MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2019
• Subjects: Dermatology; DNA Repair - genetics; Genodermatoses; Gorlin-Goltz syndrome; Hereditary tumor syndrome; 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; Xeroderma pigmentosum; Hereditary tumor syndrome; Xeroderma pigmentosum; Gorlin-Goltz syndrome; Genodermatoses
• ISSN: 0733-8635; 1558-0520
• DOI: 10.1016/j.det.2019.05.016

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.