Cowden Disease: Case Report and Review of the Literature
1
조회
0
다운로드
4
인용
0
참고문헌
키워드
초록
Cowden’s disease is a rare autosomal dominant, multiple hamartoma syndrome with characteristic mucocutaneous lesions. It is associated with abnormalities of the breast, thyroid, and gastrointestinal tract; and is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratosis. A 21-year-old male patient presented with erythematous facial papules, oral mucosal papillomatosis, and punctate palmoplantar hyperkeratosis indicating a definite case of Cowden’s disease. This disease derives from variable expression resulting from a mutation in the PTEN gene. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. On thyroid ultrasonography, several probable benign nodules were noted in the right thyroid gland. He had no pertinent family history and no other systemic findings. Further regular laboratory and image studies will be planned for our patient, as well as his family members. Sporadic Cowden’s disease is rarely observed. Herein, we report a case of Cowden’s disease without known family history. Dermatologists should be aware of the possibility of Cowden syndrome based on its several dermatologic findings.
Abstract
Cowden’s disease is a rare autosomal dominant, multiple hamartoma syndrome with characteristic mucocutaneous lesions. It is associated with abnormalities of the breast, thyroid, and gastrointestinal tract; and is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratosis. A 21-year-old male patient presented with erythematous facial papules, oral mucosal papillomatosis, and punctate palmoplantar hyperkeratosis indicating a definite case of Cowden’s disease. This disease derives from variable expression resulting from a mutation in the PTEN gene. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. On thyroid ultrasonography, several probable benign nodules were noted in the right thyroid gland. He had no pertinent family history and no other systemic findings. Further regular laboratory and image studies will be planned for our patient, as well as his family members. Sporadic Cowden’s disease is rarely observed. Herein, we report a case of Cowden’s disease without known family history. Dermatologists should be aware of the possibility of Cowden syndrome based on its several dermatologic findings.
참고문헌 (19)
- 설정은, "Cowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course", Annals of Dermatology, 27(3), pp.306~309 (2015), 대한피부과학회
- 홍은정, "유방암과 갑상선암이 동반된 Cowden 증후군 1예", Clinical Endoscopy, 32(4), pp.293~297 (2006), 대한소화기내시경학회
- 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)
- Lee HR, "Cowden’s disease--a report on the first case in Korea and literature review", J Korean Med Sci, 12, pp.570~575 (1997)
- Bagan JV, "Cowden syndrome : clinical and pathological considerations in two new cases", J Oral Maxillofac Surg, 47, pp.291~294 (1989)
- Ward SK, "Dermatologic manifestations of gastrointestinal disorders", Gastroenterol Clin North Am, 27, pp.615~636 (1998)[DOI]
- Gustafson S, "Cowden syndrome", Semin Oncol, 34, pp.428~434 (2007)
- Salem OS, "Cowden’s disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature", J Am Acad Dermatol, 8, pp.686~696 (1983)
- Eng C, "Will the real Cowden syndrome please stand up : revised diagnostic criteria", J Med Genet, 37, pp.828~830 (2000)
- Hildenbrand C, "Cowden syndrome-diagnostic skin signs", Dermatology, 202, pp.362~366 (2001)
- Brownstein MH, "Trichilemmomas in Cowden's disease", JAMA, 238, pp.26~ (1977)
- 홍원규, "Cowden 증후군 1예", 대한피부과학회지, 45(8), pp.829~831 (2007), 대한피부과학회
- Nelen MR, "Localization of the gene for Cowden disease to chromosome 10q22-23", Nat Genet, 13, pp.114~116 (1996)
- Celebi JT, "Identification of PTEN mutations in metastatic melanoma specimens", J Med Genet, 37, pp.653~657 (2000)
- Stewart AL, "PI3 kinase blockade by Ad-PTEN inhibits invasion and induces apoptosis in RGP and metastatic melanoma cells", Mol Med, 8, pp.451~461 (2002)
- Butler MG, "Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations", J Med Genet, 42, pp.318~321 (2005)
- Varga EA, "The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly", Genet Med, 11, pp.111~117 (2009)
- Danielsen SA, "Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability-and TP53 mutation-status", Hum Mutat, 29, pp.E252~E262 (2008)
- Kwong A, "Detection of germline mutation in hereditary breast and", or ovarian cancers by next-generation sequencing on a fourgene panel, 2016, pp.18, 580~594