Almenar Besó R, Vicente Bagán Sebastián J, Milián Masanet M A, Jiménez Soriano Y
Servicio de Estomatología, Hospital General Universitario de Valencia, Avda. Blasco Ibáñez, 17, 46014 Valencia.
An Med Interna. 2001 Aug;18(8):426-8.
Cowden syndrome is an autosomal-dominant inheritance disease, characterized by the presence of skin and oral mucosa multiple hamartomas and nodules, together with thyroid and breast anomalies and polyposis of the gastrointestinal tract, which tend to undergo malignant transformation, especially in breast and thyroids. Therefore, the oral lesions early diagnosis facilitates the identification of asintomatic lesions, in other parts of the body. This is the case in the report we are to present, in which the patient, probably with the Cowden Syndrome, because of the presence of multiple hamartomas in the oral mucose diagnosed a breast carcinoma, and other alterations such as thyroid calcifications and polyposis of the gastrointestinal tract.
考登综合征是一种常染色体显性遗传病,其特征为皮肤和口腔黏膜出现多发性错构瘤和结节,同时伴有甲状腺和乳腺异常以及胃肠道息肉病,这些病变易于发生恶性转化,尤其是在乳腺和甲状腺。因此,口腔病变的早期诊断有助于发现身体其他部位的无症状病变。我们即将展示的这份报告中的病例便是如此,该患者可能患有考登综合征,因口腔黏膜存在多发性错构瘤而被诊断出患有乳腺癌,以及其他病变,如甲状腺钙化和胃肠道息肉病。