Jornayvaz F R, Philippe J
Service of Endocrinology, Diabetes and Nutrition, Geneva University Hospital, Geneva, Switzerland.
Clin Exp Dermatol. 2008 Mar;33(2):151-3. doi: 10.1111/j.1365-2230.2007.02602.x. Epub 2007 Nov 15.
Cowden syndrome (CS; also known as multiple hamartoma syndrome) is a rare autosomal dominant disorder characterized by multiple hamartomas and a high risk of development of thyroid, breast, endometrial and other cancers. The cardinal features of the disease, which often lead to diagnosis, include mucocutaneous papillomatous papules and trichilemmomas. Most affected people develop these characteristic lesions by the age of 20 years. Once diagnosed, gene identification can be offered to family members of affected patients. We report a case of the disease and briefly review the current literature.
考登综合征(CS;也称为多发性错构瘤综合征)是一种罕见的常染色体显性疾病,其特征为多发性错构瘤以及甲状腺、乳腺、子宫内膜和其他癌症的高发风险。该疾病的主要特征常导致诊断,包括皮肤黏膜乳头状丘疹和毛发上皮瘤。大多数患者在20岁时会出现这些特征性病变。一旦确诊,可为受影响患者的家庭成员提供基因鉴定。我们报告了一例该疾病病例并简要回顾了当前文献。