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

Sep 23, 2026

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Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review summarizes dermatological signs linked to these syndromes to support clinical recognition. It highlights hallmark skin patterns across multiple entities, including increased melanoma risk in Hereditary Breast and Ovarian Cancer syndrome, distinctive BAP1-inactivated melanocytic tumors, and characteristic neoplasms in Muir–Torre syndrome. It also discusses PTEN hamartoma tumor syndrome, Gorlin syndrome, Peutz–Jeghers syndrome, familial adenomatous polyposis, and monogenic disorders with skin involvement. Early recognition enables timely diagnosis and appropriate surveillance.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages20

Reading Time50 min

AccessFree to download

Abstract

1. Introduction

2. Hereditary Cancer Syndromes and Skin Manifestations

2.1. Hereditary Breast and Ovarian Cancer Syndrome and Melanoma

Review Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations Ilse Gabriela Ochoa-Mellado 1, Alejandra Padua-Bracho 1, Paula Cabrera-Galeana 2 and Rosa María Alvarez-Gómez 1, * Academic Editors: Yulin Jin, Yujing Li and Andrzej Slominski Received: 30 April 2025 Revised: 18 June 2025 Accepted: 23 June 2025 Published: 26 June 2025 Citation: Ochoa-Mellado, I.G.; Padua-Bracho, A.; Cabrera-Galeana, P.; Alvarez-Gómez, R.M. Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations. Int. J. Mol. Sci. 2025, 26, 6140. [https://](https://)[ ](https://)[doi.org/10.3390/ijms26136140](doi.org/10.3390/ijms26136140) [Copyright:](Copyright:) © 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://creativecommons.org/](https://creativecommons.org/)[ ](https://creativecommons.org/)[licenses/by/4.0/](licenses/by/4.0/)) . 1 Clínica de Cáncer Hereditario, Instituto Nacional de Cancerología, Mexico City 14080, Mexico; [doctoragen.ilse@gmail.com](doctoragen.ilse@gmail.com) (I.G.O.-M.); [alejandra.padua@gmail.com](alejandra.padua@gmail.com) (A.P.-B.) 2 Subdirección Oncología, Instituto Nacional de Cancerología, Mexico City 14080, Mexico; [drapaulacabrera@gmail.com](drapaulacabrera@gmail.com) * Correspondence: [ralvarezg@incan.edu.mx](ralvarezg@incan.edu.mx); Tel.: +52-55-36-93-52-00 (ext. 205) 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 carcinomasand 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: hereditary cancer; skin; early diagnosis; dermatological manifestations; genodermatosis 1. Introduction Hereditary cancer predisposition syndromes account for approximately 10% of all cancer etiologies [1] . These syndromes are variable and present with distinctive tumorsand/or clinical features that help us to suspect and determine the diagnosis [2] . In some cases, cutaneous manifestations could be the first sign that we observe, for example, mucocutaneous pigmentations seen in Peutz–Jeghers syndrome [3]; palmar pits in Gorlin syndrome [4]; nonmalignant neoplasms, presenting as sebaceous adenomas or epitheliomas, seen in Muir–Torre syndrome [5]; or even malignant neoplasms such as basocellular carcinoma (BCC), squamous cell carcinoma (SCC), and cutaneous melanoma. This review aims to provide a comprehensive overview of all the dermatologic manifestations observed in both here

FAQs

Why are skin findings important in hereditary cancer predisposition syndromes?

Skin manifestations can be early and, in some cases, the first clinical indicators. Recognizing them supports suspicion of the underlying syndrome and helps guide further evaluation.

Which hereditary cancer syndromes are specifically linked to characteristic dermatological manifestations?

The review describes multiple syndromes, including Hereditary Breast and Ovarian Cancer (with melanoma risk), BAP1 tumor predisposition syndrome, Muir–Torre syndrome, PTEN hamartoma tumor syndrome, Gorlin syndrome, Peutz–Jeghers syndrome, and familial adenomatous polyposis.

How does early recognition of dermatologic features affect patient management?

Early recognition facilitates timely diagnosis and enables implementation of appropriate surveillance strategies. It also supports interdisciplinary collaboration for confirmatory testing and long-term follow-up.

Sep 23, 2026

Uploaded by Terk