Cowden's syndrome diagnosed through oral lesions: A case report

Research output: Contribution to journalArticlepeer-review

Abstract

Cowden's syndrome (CS), also known as multiple hamartoma syndrome, is a rare autosomal dominant genoderma-tosis first described in 1963. It has a high penetrance in both sexes and variable phenotypes. Its origin is a PTEN (phosphatase and tensin homologue) gene mutation and affects multiple organs of endodermal, ectodermal, and mesodermal origin, resulting in the development of hamartomatous mucocutaneus lesions and an increased risk for malignancies in breast, thyroid, endometrium, kidney, colon, rectum, among other organs. The diagnosis of CS is based mainly on clinical findings and oral cavity manifestations are frequent, occurring in 80-90% of patients. This include oral and labial papillomatous papules that usually precede the development of malignant tumours. Here, we report a case of a 58-years-old male with a presumptive diagnosis of multiple “pseudofibromas” in the oral cavity that was diagnosed with CS by a dental surgeon through the identification of extra and intraoral lesions, demonstrating the importance of awareness of this entity in the dental community to improve its early diagnosis, which is vital for the early detection and treatment of malignancies.

Original languageEnglish
Pages (from-to)1162-1166
Number of pages5
JournalJournal of Clinical and Experimental Dentistry
Volume13
Issue number11
DOIs
Publication statusPublished - 2021

Keywords

  • Cowden's Syndrome
  • Multiple Hamartoma Syndrome
  • Papillomatous papules
  • PTEN Hamartoma Tumor Syndrome

ASJC Scopus subject areas

  • Dentistry(all)

Fingerprint

Dive into the research topics of 'Cowden's syndrome diagnosed through oral lesions: A case report'. Together they form a unique fingerprint.

Cite this