Atypical thyroid manifestation in Cowden disease: a case report and literature review.

ABSTRACT:

Background

Cowden syndrome (CS) is a complex and rare hereditary disorder characterized by a high risk of developing both benign and malignant tumors. Germline variants in the PTEN gene lead to this autosomal dominant syndrome, which predisposes individuals to lesions of the skin and mucous membranes, as well as breast, thyroid, endometrial, and kidney cancers. Early identification of symptoms is essential for implementing effective therapeutic strategies, especially in managing thyroid cancer risk.

Case presentation

During a tonsillectomy in an 8-year-old boy, the surgeon incidentally noted a left lateralized thyroid swelling. The clinical picture of Cowden syndrome was further supported by the presence of macrocephaly and intellectual disability since birth along wi

SUBMITTER: Garcia M 

PROVIDER: S-EPMC11911469 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature