Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations

Abstract

Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review provides a comprehensive overview of the dermatological signs associated with these syndromes, aiming to facilitate their recognition in clinical practice. Hereditary Breast and Ovarian Cancer syndrome is notably linked to an increased risk of melanoma. BAP1 tumor predisposition syndrome is characterized by BAP1-inactivated melanocytic tumors. Muir-Torre syndrome, a variant of Lynch syndrome, presents with distinctive cutaneous neoplasms such as sebaceous carcinomas, sebaceous adenomas, and keratoacanthomas. PTEN hamartoma tumor syndrome commonly features hamartomatous growths, trichilemmomas, acral keratoses, oral papillomas, and genital lentiginosis. Gorlin syndrome is marked by basal cell carcinomas and palmoplantar pits, while Peutz-Jeghers syndrome is identified by mucocutaneous pigmentation. In familial adenomatous polyposis, the cutaneous findings include epidermoid cysts, fibromas, desmoid tumors, and lipomas. Additionally, we examined monogenic disorders associated with cancer risk and skin involvement, such as xeroderma pigmentosum, neurofibromatosis type 1, familial atypical multiple-mole melanoma syndrome, and Fanconi anemia. The early recognition of these dermatologic features is essential for a timely diagnosis and the implementation of appropriate surveillance strategies in individuals with hereditary cancer syndromes.

Keywords: dermatological manifestations; early diagnosis; genodermatosis; hereditary cancer; skin.

Figure 1

(a) Skin manifestations in hereditary cancer syndromes. Each square determines each of the hereditary cancer syndromes described with the dermatological manifestations, indicating the principal site of incidence and the frequency of the manifestation in each syndrome. (b) Recommended surveillance is also included; * indicates the surveillance specific to a particular syndrome. Created in biorender.com.

Figure 2

Monogenetic diseases with cancer predisposition and skin manifestations. (a) Each square determines each of the monogenetic diseases and the principal skin manifestations, while each line determines the principal sites of incidence of the skin manifestations and the frequency of the manifestation. (b) Recommended surveillance and management are also included, where * indicates surveillance and ** indicates management specific to a syndrome. Created in biorender.com.