Carinci Silvia, Tumini Stefano, Consilvio Nicola Pietro, Cipriano Paola, Di Stefano Alessia, Vercellino Nadia, Dalmonte Pietro, Chiarelli Francesco
Department of Pediatrics, University of Cheti, Chieti, Italy.
J Pediatr Endocrinol Metab. 2012;25(5-6):603-5. doi: 10.1515/jpem-2012-0002.
Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.
尽管血管瘤是血管源性良性肿瘤，在儿童中非常常见，也是该年龄段最常见的良性肿瘤，但它们与其他畸形的关联构成了一种罕见的神经皮肤疾病，称为PHACE综合征。这种疾病的特征是后颅窝异常、面部血管瘤、动脉改变、心脏缺陷和眼部异常（由首字母缩写词PHACE表示）；也可能存在胸骨缺陷、内分泌病和甲状腺疾病。在本报告中，我们描述了一名意大利儿童因甲状腺超声显示为空甲状腺部位而导致先天性甲状腺功能减退的病例。
