Lee Jongeun, Shin Dong Min, Oh Se Jin, Park Ji-Hye, Lee Dongyoun
Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Dermatol. 2023 Apr;35(2):146-150. doi: 10.5021/ad.20.265.
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.
考登综合征由磷酸酶及张力蛋白同源物(PTEN)基因的突变引起,是PTEN错构瘤肿瘤综合征的一部分。皮肤病变包括毛发上皮瘤、肢端角化病、黏膜皮肤神经瘤和口腔乳头状瘤是考登综合征患者中最常见的特征。它还具有患恶性肿瘤的风险增加,包括乳腺癌、甲状腺癌、子宫内膜癌和结直肠癌。由于患癌风险增加,早期诊断和定期监测对考登综合征患者很重要。在此,我们报告一例有多种皮肤表现和甲状腺癌的考登综合征病例。