Ann Dermatol.  2023 Apr;35(2):146-150. 10.5021/ad.20.265.

A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations

• Lee J
• Shin DM
• Oh SJ
• Park JH
• Lee D

• KMID: 2541118
• DOI: http://doi.org/10.5021/ad.20.265

Abstract

Cowden syndrome is caused by mutations in the phosphatase and tensin homolog (PTEN) gene and is part of the PTEN hamartoma tumor syndrome. Skin lesions including trichilemmomas, acral keratosis, mucocunateous neuromas and oral paillomas are the most prevalent feature found in patients with Cowden syndrome. It also possesses an increased risk of developing malignancies including breast, thyroid, endometrial, and colorectal cancers. Due to the increased risk of cancer, early diagnosis and regular surveillance are important for Cowden syndrome patients. Herein, we report a case of Cowden syndrome with diverse cutaneous manifestations and thyroid cancer.

Keyword

Cowden syndrome; Hamartoma syndrome; Multiple; Neoplasms; PTEN phosphohydrolase; Skin neoplasms