Son Jee Hee, Chung Bo Young, Jung Min Je, Choi Yong Won, Kim Hye One, Park Chun Wook
Department of Dermatology, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea.
Ann Dermatol. 2019 Jun;31(3):325-330. doi: 10.5021/ad.2019.31.3.325. Epub 2019 May 1.
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 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.
考登病是一种罕见的常染色体显性遗传的多发性错构瘤综合征，伴有特征性的皮肤黏膜病变。它与乳腺、甲状腺和胃肠道异常有关；其特征是胃肠道存在多发性错构瘤以及皮肤黏膜病变，如毛发上皮瘤、口腔乳头状瘤、面部丘疹和肢端角化病。一名21岁男性患者出现面部红色丘疹、口腔黏膜乳头状瘤和掌跖点状角化过度，提示确诊为考登病。这种疾病源于该基因的突变导致的可变表达。胃肠内镜检查和结肠镜检查显示胃和结肠有多个错构瘤。甲状腺超声检查发现右侧甲状腺有几个可能的良性结节。他没有相关家族史，也没有其他全身症状。我们将为该患者及其家庭成员安排进一步的定期实验室和影像学检查。散发性考登病很少见。在此，我们报告一例无已知家族史的考登病病例。皮肤科医生应根据考登综合征的多种皮肤表现意识到其可能性。
