Muir-Tower syndrome: an unsuspected disease
DOI:
https://doi.org/10.62059/61t8gx56Keywords:
Muir-Torre Syndrome, colorectal neoplasms., sebaceous glands, skin neoplasms, Lynch SyndromeAbstract
Muir–Torre syndrome is a rare autosomal dominant genetic disorder associated with Lynch syndrome, characterized by the coexistence of cutaneous sebaceous neoplasms and visceral malignancies, primarily colorectal and gynecological cancers. Early recognition of this syndrome enables the identification of individuals with a hereditary predisposition to cancer and facilitates the implementation of appropriate surveillance strategies. The aim of this review was to analyze the available evidence regarding the epidemiology, pathophysiology, clinical manifestations, diagnosis, and management of Muir–Torre syndrome. A narrative literature review was conducted through the evaluation of studies published in high-impact biomedical databases. The available evidence indicates that diagnosis relies on the integration of clinical, histopathological, and genetic findings, whereas management requires a multidisciplinary approach with regular surveillance for the early detection of malignancies. A comprehensive understanding of this syndrome promotes timely diagnosis and improves outcomes for affected patients and their families.References
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