Ng Elise, Terushkin Vitaly, Meehan Shane A, Ho Roger, Pomeranz Miriam Keltz
Ronald O. Perelman Department of Dermatology, NYU School of Medicine, NYU Langone Medical Center.
Dermatol Online J. 2016 Dec 15;22(12):13030/qt2743j3qs.
Cowden syndrome (CS) is a genetic cancerpredisposition syndrome that is associated withgermline mutations in the phosphate and tensinhomologue deleted on chromosome ten (PTEN)tumor suppressor gene. It is characterizedby the formation of benign and malignanttumors. Characteristic benign tumors includetrichilemmommas, acral keratoses, mucocutaneousneuromas, and oral papillomas. The most commonmalignant condition include breast, thyroid, andendometrial cancers. We present a case of a30-year-old woman with CS, who initially presentedwith trichilemmomas that were misdiagnosed ascomedonal acne. Recognition of the presentingfeatures of CS is important to ensure proper referral,management, and treatment for these patients.
考登综合征（CS）是一种遗传性癌症易感性综合征，与10号染色体上缺失的磷酸酶和张力蛋白同源物（PTEN）肿瘤抑制基因的种系突变有关。它的特征是形成良性和恶性肿瘤。特征性良性肿瘤包括毛发上皮瘤、肢端角化病、黏膜皮肤神经瘤和口腔乳头状瘤。最常见的恶性疾病包括乳腺癌、甲状腺癌和子宫内膜癌。我们报告一例30岁患有考登综合征的女性病例，她最初表现为毛发上皮瘤，被误诊为粉刺性痤疮。认识考登综合征的临床表现对于确保这些患者得到适当的转诊、管理和治疗非常重要。
