葡萄酒色斑作为两种罕见并存疾病的线索。
Port-wine stain as a clue for two rare coexisting entities.
作者信息
Almeida Filipa Tavares, Caldas Regina, Duarte Maria da Luz, Brito Celeste
机构信息
Department of Dermatovenereology, Hospital de Braga, Braga, Portugal.
出版信息
BMJ Case Rep. 2018 Jul 13;2018:bcr-2018-225721. doi: 10.1136/bcr-2018-225721.
Abstract
Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities. Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.
摘要
色素血管性斑痣性错构瘤病（PPV）是一种罕见的皮肤病，其特征为色素沉着和血管异常同时存在。其发病机制尚未阐明，预后主要取决于是否存在皮肤外表现，如Klippel-Trenaunay综合征（KTS），该综合征由葡萄酒色斑（PWS）、异常静脉和受累肢体进行性过度生长三联征定义。在此，我们报告一例成年患者，其表现为大面积PWS、太田痣、眼黑变病以及肢体肥大和静脉曲张。这些表现代表了罕见的IIb型PPV与KTS的关联。
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