Kumandaş S, Gümüş H, Kurtoğlu S, Elmas B, Kontaş O
Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
J Pediatr Endocrinol Metab. 2001 Jun;14(6):807-10. doi: 10.1515/jpem.2001.14.6.807.
Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Acanthosis nigricans is a cutaneous disorder characterized by hyperpigmentation and papillomatosis. Syndromal acanthosis nigricans may occasionally appear as a feature of several specific syndromes. We report a patient showing the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia.
科恩综合征是一种罕见的遗传性疾病,其特征包括躯干肥胖、肌张力减退、智力障碍、小头畸形、特征性面容和眼部异常。其他诊断性临床特征包括手足狭窄、生长参数低、中性粒细胞减少和脉络膜视网膜营养不良。黑棘皮病是一种以色素沉着和乳头瘤病为特征的皮肤疾病。综合征性黑棘皮病偶尔可能作为几种特定综合征的特征出现。我们报告了一名具有黑棘皮病和高胰岛素血症的典型科恩综合征特征的患者。