A Case of Cowden Syndrome Presenting with Diverse Cutaneous Manifestations
0
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (18)
- Bubien V, "High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome", J Med Genet, 50, pp.255~263 (2013)
- Blumenthal GM, "PTEN hamartoma tumor syndromes", Eur J Hum Genet, 16, pp.1289~1300 (2008)
- Nelen MR, "Novel PTEN mutations in patients with Cowden disease : absence of clear genotype-phenotype correlations", Eur J Hum Genet, 7, pp.267~273 (1999)
- Lloyd KM 2nd, "Cowden's disease. A possible new symptom complex with multiple system involvement", Ann Intern Med, 58, pp.136~142 (1963)
- Hobert JA, "PTEN hamartoma tumor syndrome : an overview", Genet Med, 11, pp.687~694 (2009)
- Kim DK, "Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome", Dis Colon Rectum, 48, pp.1714~1722 (2005)
- Pilarski R, "Cowden syndrome and the PTEN hamartoma tumor syndrome : systematic review and revised diagnostic criteria", J Natl Cancer Inst, 105, pp.1607~1616 (2013)
- Eng C, "PTEN : one gene, many syndromes", Hum Mutat, 22, pp.183~198 (2003)
- Hildenbrand C, "Cowden syndrome-diagnostic skin signs", Dermatology, 202, pp.362~366 (2001)
- Porto AC, "Cowden syndrome : report of a case and brief review of literature", An Bras Dermatol, 88(6 Suppl 1), pp.52~55 (2013)
- Pilarski R, "Cowden syndrome : a critical review of the clinical literature", J Genet Couns, 18, pp.13~27 (2009)
- Garofola C, "StatPearls" (2022), Stat-Pearls Publishing
- Macken WL, "PTEN Hamartoma tumor syndrome in childhood : a review of the clinical literature", Am J Med Genet C Semin Med Genet, 181, pp.591~610 (2019)
- Tan MH, "Lifetime cancer risks in individuals with germline PTEN mutations", Clin Cancer Res, 18, pp.400~407 (2012)
- Chang-Mo Oh, "National Epidemiologic Survey of Thyroid cancer (NEST)in Korea", Epidemiology and Health, 40, pp.1~6 (2018), 한국역학회[DOI]
- "NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 2.2019)" (2019)[URL]
- 손지희, "Cowden Disease: Case Report and Review of the Literature", Annals of Dermatology, 31(3), pp.325~330 (2019), 대한피부과학회[DOI]
- 설정은, "Cowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course", Annals of Dermatology, 27(3), pp.306~309 (2015), 대한피부과학회