An unusual presentation of glomeruloid hemangioma in a patient with VHL syndrome: A case report and review of literature

Von Hippel-Lindau (VHL) is an inherited neoplasia syndrome caused by inactivation of the VHL tumor suppressor gene, characterized by the development of sporadic clear cell renal carcinoma, pheochromocytomas, retinal angioma, pancreatic cysts, and CNS hemangioblastomas. Glomeruloid hemangioma is a vascular lesion, previously considered to be specifically associated with POEMS (polyneuropathy, organomegaly, endocrinopathy/edema, M-protein and skin abnormalities) syndrome. However, there are reports of solitary glomeruloid hemangioma in patients without POEMS syndrome. We report the case of a 39-year-old male with VHL disease, with known bilateral clear cell renal carcinomas, CNS hemangioblastoma and pancreatic cysts. The patient presented with a0.35 cmred papule on the left lateral neck, which was easily irritated, and bleed frequently. Histopathologically, there were irregular areas of ectatic vascular channels of small capillaries, resembling renal glomeruli, surrounded by actin-positive pericytes, within the dermis. These findings were consistent with a glomeruloid hemangioma. Fluorescent in-situ hybridization studies confirmed a deletion in the 3p25.3 region. As per clinical tests, no evidence of POEMS syndrome was found in this patient. Only six reports of glomeruloid hemangioma have been previously reported in patients without POEMS syndrome and this constitutes the first report of glomeruloid hemangioma in a patient with VHL.

颅内胶质母细胞瘤和转移癌间质中肾小球样血管结构的病理学及免疫组织化学研究

应用病理组织学及免疫组织化学方法研究了１６例胶质母细胞瘤和１２例脑转移癌的间质血管改变。结果显示：胶质母细胞瘤和脑转移癌间质血管均有明显的增生，并以形成肾小球样血管结构为其特点。肾小球样血管结构在这两种肿瘤中的分布特点构成了它们不同ＣＴ改变的病理学基础。免疫组织化学的标记结果证实，肾小球样血管结构的形成，不单是内皮细胞增生，主要是肿瘤间质小血管平滑肌细胞增生的结果，并提示血管平滑肌细胞的增生与其本身存在有血小板源生长因子（ＰＤＧＦ）的受体有关。

POEMS综合征

报告1例POEMS综合征。患者男,61岁。皮损主要表现为胸背部多发圆顶状丘疹、结节,皮损组织病理示肾小球样血管瘤。另外患者有多发性神经病变、脏器肿大、甲状腺功能减低、M-蛋白,符合POEMS综合征5项主征。

肾小球样血管瘤

报告1例肾小球样血管瘤。患儿男,9岁。颈部红色丘疹3年,逐渐增大,无任何不适。体格检查示颈部一0.5 cm×0.8 cm红色结节:系统检查无异常。皮损组织病理检查示真皮内较多扩张的血管腔,内含增生的毛细血管袢,似肾小球结构。免疫组化检查示扩张的血管腔和毛细血管袢内皮细胞CD31和CD34阳性。诊断为肾小球样血管瘤。

腹腔积液1月余,肾功能异常2周

Castleman病和POEMS综合征属于罕见病,二者关系密切,但临床对其肾脏损伤认识不多。本例患者为44岁男性,病初表现为顽固性腹腔积液,之后出现肾功能异常及下肢水肿,查体发现颈胸部多发血管瘤,炎症指标及血清血管内皮生长因子明显升高,M蛋白阴性。皮肤活检示肾小球样血管瘤,肾活检表现为内皮细胞病及小管间质损害,淋巴结活检诊断为Castleman病。加用足量泼尼松和环磷酰胺后,病情迅速缓解,肾功能恢复正常。

POEMS综合征皮肤病变研究进展

POEMS综合征是一种罕见单克隆浆细胞恶液质相关副肿瘤综合征,皮肤病变是其主要临床特征之一,发生率约90%,其中色素沉着过度、多毛症、肾小球样血管瘤、多血质、肢端发绀、潮红、白甲均已被纳入POEMS综合征次要诊断标准。但POEMS综合征皮肤病变具有多样性,雷诺现象、钙化防御、网状青斑、面部脂肪萎缩等多种皮肤病变因缺乏特异性而未得到重视。皮肤病变可为POEMS综合征的诊断提供临床线索。本文就POEMS综合征皮肤病变的研究进展作一综述。