
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Cowden syndrome history and symptoms
Introduction
Overview
Overview
The hallmark of cowden syndrome is Trichilemmomas. A positive history of PTEN gene mutation is suggestive of cowden syndrome. The most common symptoms of cowden syndrome includetrichilemmomas, oral papillomas and acral keratoses is suggestive of cowden syndrome.
History and Symptoms
History and Symptoms
- The hallmark of cowden syndrome is trichilemmomas.
History
Patients with cowden syndrome may have a positive history of:[1]
Common Symptoms
Common symptoms of cowden syndrome include:[2][3][4][5]
- Trichilemmomas
- Oral fibromas
- Acral keratoses
- Hamartomas
- Macrocephaly
- Autism spectrum disorder
- Intellectual disability
- Vascular abnormalities
- Genital lesions
Less Common Symptoms
Less common symptoms of cowden syndrome include:
References
References
- β Cho YJ, Liang P (April 2008). “Killin is a p53-regulated nuclear inhibitor of DNA synthesis”. Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5396β401. doi:10.1073/pnas.0705410105. PMCΒ 2291080. PMIDΒ 18385383.
- β Al-Zaid T, Ditelberg JS, Prieto VG, Lev D, Luthra R, Davies MA, Diwan AH, Wang WL, Lazar AJ (May 2012). “Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors”. J. Cutan. Pathol. 39 (5): 493β9. doi:10.1111/j.1600-0560.2012.01888.x. PMIDΒ 22486434.
- β Tellechea O, Cardoso JC, Reis JP, Ramos L, Gameiro AR, Coutinho I, Baptista AP (2015). “Benign follicular tumors”. An Bras Dermatol. 90 (6): 780β96, quiz 797β8. doi:10.1590/abd1806-4841.20154114. PMCΒ 4689065. PMIDΒ 26734858.
- β Karabulut YY, Εenel E, Karabulut HH, DΓΆlek Y (2015). “Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus”. An Bras Dermatol. 90 (4): 519β22. doi:10.1590/abd1806-4841.20153785. PMCΒ 4560541. PMIDΒ 26375221.
- β Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). “Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria”. J. Natl. Cancer Inst. 105 (21): 1607β16. doi:10.1093/jnci/djt277. PMIDΒ 24136893.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
