Ochoa-Mellado Ilse Gabriela, Padua-Bracho Alejandra, Cabrera-Galeana Paula, Alvarez-Gómez Rosa María
Clínica de Cáncer Hereditario, Instituto Nacional de Cancerología, Mexico City 14080, Mexico.
Subdirección Oncología, Instituto Nacional de Cancerología, Mexico City 14080, Mexico.
Int J Mol Sci. 2025 Jun 26;26(13):6140. doi: 10.3390/ijms26136140.
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.
皮肤表现可作为各种遗传性癌症易感性综合征的早期甚至有时是首个临床指标。本综述全面概述了与这些综合征相关的皮肤体征,旨在促进其在临床实践中的识别。遗传性乳腺癌和卵巢癌综合征尤其与黑色素瘤风险增加有关。BAP1肿瘤易感性综合征的特征是BAP1失活的黑素细胞肿瘤。穆尔-托雷综合征是林奇综合征的一种变体,表现为独特的皮肤肿瘤,如皮脂腺癌、皮脂腺腺瘤和角化棘皮瘤。PTEN错构瘤肿瘤综合征通常以错构瘤性生长、毛发上皮瘤、肢端角化病、口腔乳头状瘤和生殖器雀斑样痣为特征。戈林综合征以基底细胞癌和掌跖凹为特征,而佩-吉综合征则以黏膜皮肤色素沉着为特征。在家族性腺瘤性息肉病中,皮肤表现包括表皮样囊肿、纤维瘤、硬纤维瘤和脂肪瘤。此外,我们还研究了与癌症风险和皮肤受累相关的单基因疾病,如着色性干皮病、1型神经纤维瘤病、家族性非典型多发性痣黑色素瘤综合征和范科尼贫血。早期识别这些皮肤特征对于遗传性癌症综合征患者的及时诊断和实施适当的监测策略至关重要。