Bricheva E B, Nagaeva E V, Brovin D N, Bondarenko E V, Sheremeta M S, Bezlepkina O B, Olina T S, Kovalenko T V
Endocrinology Research Centre.
Republican children's clinical hospital.
Probl Endokrinol (Mosk). 2024 Nov 4;70(5):84-90. doi: 10.14341/probl13445.
Cowden disease (Cowden syndrome) refers to PTEN-associated hamartoma tumor syndromes. It arises due to a mutation in the phosphatase and tensin homolog gene, one of the main functions of which is cell cycle regulation. The presence of a mutation in the gene leads to uncontrolled cell growth, and patients have a lifelong increased risk of neoplasms of various degrees of malignancy. This article presents a clinical case of Cowden syndrome with an early debut at the age of 7 years. The combination of macrocephaly (SDS of head circumference >2) with various skin manifestations (facial trichilemmomas, acral keratosis, papillomatous papules) and the presence of benign and/or malignant neoplasms are pathognomonic for Cowden syndrome. Of the malignancies, breast and thyroid cancer, colorectal cancer, renal cell carcinoma, and endometrial cancer are the most common. Thyroid carcinoma has been shown to have an earlier age of manifestation and often occurs already in childhood. This determines the need to screen patients with a proven mutation in the PTEN gene for nodal neoplasms from an early age. If surgical treatment is necessary, thyroidectomy remains preferable due to the frequent recurrence of nodules, as well as the uncertain potential for malignancy due to the low study of thyroid nodules in patients with mutations in the PTEN gene.
考登病（考登综合征）指的是与磷酸酶和张力蛋白同源物（PTEN）相关的错构瘤肿瘤综合征。它是由于磷酸酶和张力蛋白同源基因发生突变而引起的，该基因的主要功能之一是细胞周期调控。该基因突变的存在会导致细胞生长失控，患者终生患各种恶性程度肿瘤的风险增加。本文介绍了一例7岁时就早期发病的考登综合征临床病例。巨头畸形（头围标准差评分＞2）与各种皮肤表现（面部毛发上皮瘤、肢端角化病、乳头状丘疹）以及良性和/或恶性肿瘤的存在相结合是考登综合征的特征性表现。在恶性肿瘤中，乳腺癌、甲状腺癌、结直肠癌、肾细胞癌和子宫内膜癌最为常见。甲状腺癌已被证明发病年龄较早，且常于儿童期就已出现。这就决定了有必要从幼年起就对已证实PTEN基因发生突变的患者进行结节性肿瘤筛查。如果有必要进行手术治疗，由于结节频繁复发，以及PTEN基因突变患者甲状腺结节的恶性潜能研究不足，甲状腺切除术仍是首选。
