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

ABSTRACT:

Background

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.

Methods/results

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

SUBMITTER: Yuan W 

PROVIDER: S-EPMC10889125 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature