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An Bras Dermatol. 2013 Nov-Dec;88(6 Suppl 1):52-5. doi: 10.1590/abd1806-4841.20132578.

Cowden Syndrome: report of a case and brief review of literature.

Author information

1
Ludwig-Maximilian University of Munich, Medical Department of Dermatology and Allergy, Germany.
2
Ludwig-Maximilian University of Munich, Department of Dermatology and Allergy, Germany.

Abstract

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.

PMID:
24346879
PMCID:
PMC3876002
DOI:
10.1590/abd1806-4841.20132578
[Indexed for MEDLINE]
Free PMC Article

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