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

Anais Brasileiros De Dermatologia
Ana Carolina Souza PortoThomas Ruzicka

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.

References

Oct 31, 2008·Journal of Genetic Counseling·Robert Pilarski
Mar 12, 2011·Medical Oncology·Seda TutluerGulay Sain Guven
Apr 22, 2011·International Journal of Dermatology·Mohamed AmerSamia Ibrahim
Sep 3, 2011·Journal of Dermatological Case Reports·Abderrahmen MasmoudiHamida Turki
Apr 17, 2012·Hereditary Cancer in Clinical Practice·Inga Melbārde-GorkušaEdvīns Miklaševičs
Aug 1, 2012·Journal of Medical Case Reports·Sonia HammamiSilvia Mahjoub
Nov 23, 2012·International Journal of Dermatology·Luana V MukamalMarcia Ramos-e-Silva
Jan 22, 2013·Journal of Medical Genetics·Virginie BubienUNKNOWN French Cowden Disease Network

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Citations

Jun 6, 2014·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·C SeebodeK Giehl
Aug 27, 2015·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·D BranyT Burjanivova
Dec 17, 2014·Biochimica Et Biophysica Acta·Leopoldo StaianoMaria Antonietta De Matteis
Aug 30, 2016·JAAD Case Reports·Lubna SuaitiDebjani Sahni
Aug 25, 2018·Journal of Thoracic Imaging·Ahmad ParvinianThomas E Hartman
Jul 16, 2017·BMJ Case Reports·Tanvi DevGomathy Sethuraman
Jun 10, 2021·Head and Neck Pathology·Sebastião Silvério Sousa-NetoElismauro Francisco Mendonça
Aug 19, 2020·World Journal of Surgical Oncology·Sofia MigueloteJ P Araújo Teixeira

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Methods Mentioned

BETA
biopsy
hysterectomy

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