A rare case report of the Cowden syndrome

Abstract

Cowden syndrome (CS) is a rare autosomal dominant genodermatosis caused by a heterozygous germline mutation in the PTEN gene, found in nearly 80% of cases. It is characterized by multiple benign hamartomas which manifest across various organs. This condition is further distinguished by its association with macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and a heightened susceptibility to certain malignant neoplasms, particularly affecting the thyroid, endometrium, and the breast (OMIM no. 58350).In this report, we detail the case of an Indian patient presenting with macrocephaly and multiple blackish pigmented areas on the face, alongside several small papules on the dorsum of the hands, and the presence of gastric and duodenal polyps, among other symptoms. Genetic analysis through Sanger sequencing of the PTEN gene revealed a heterozygous nonsense pathogenic variant (ENST00000371953.8: c.388C > T, p.Arg130Ter), thereby confirming a CS diagnosis. The report encompasses a comprehensive review of the existing literature, emphasizing the significance of genetic evaluation and discussing the intricacies of managing patients diagnosed with CS.