# Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation

## TL;DR

A rare case of Cowden syndrome with PTEN mutations is reported, highlighting unusual oral symptoms and the importance of genetic testing for diagnosis.

## Contribution

This case report adds to the limited literature on Cowden syndrome presenting primarily with oral manifestations.

## Key findings

- A 41-year-old male with PTEN mutations exhibited rare oral lesions and other CS features.
- Genetic testing confirmed PTEN mutations in the proband and his brother.
- The case emphasizes the need for awareness of atypical oral presentations of Cowden syndrome.

## Abstract

Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.

We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.

There are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.