Sturge-Weber综合征1例

Sturge-Weber综合征（脑-三又神经血管瘤，简称SWS）是先天性疾病，为累及皮肤、脑、眼等部位的血管瘤，可引起相应临床症状现将我们所见1例报道如下。     

儿童Sturge-Weber综合征27例临床及影像学特征分析

【摘要】 目的 分析儿童Sturge-Weber 综合征的临床及影像学特征。方法 回顾性分析徐州医科大学附属徐州儿童医院2013年7月至2019年12月诊治的27例儿童Sturge-Weber 综合征患者的临床资料。结果 27例患儿中，男17例，女10例，就诊年龄2 d至10岁7个月，平均2.54岁。27例均有面部鲜红斑痣，皮损分布跨越面部中线位置，淡红色至紫红色不等，其中偏侧优势分布者21例，双侧对称分布者6例。17例患儿合并眼脉络膜血管畸形，其中先天性青光眼14例，眼压高5例，视神经萎缩伴短暂性失明1例。神经系统损害主要临床表现为癫痫，12例。27例均行影像学检查，其中20例发现异常：计算机断层扫描检查结果异常的10例中8例有局部钙化灶，8例皮损侧颅骨局部增厚；核磁共振平扫检查结果异常的14例中13例有脑萎缩征象；9例核磁共振增强检查提示脑回样强化血管影；5例核磁共振血管造影提示患侧大脑前中动脉分支减少等异常征象。结论 Sturge-Weber 综合征患儿以面部鲜红斑痣偏侧优势分布为主要临床特征，部分伴有癫痫、青光眼或智力低下，影像学检查提示局部钙化灶、脑萎缩、局部颅骨板障增厚、脑回样强化血管影等异常，需早期明确诊断后系统综合治疗，降低致残率及致死率，并长期随访。     

儿童Sturge-Weber综合征皮疹分布的临床意义探讨

目的:分析儿童Sturge-Weber综合征（SWS）患者面部鲜红斑痣分布特征及颅脑影像学特点。方法:回顾性分析2017年7月至2020年8月在首都儿科研究所附属儿童医院皮肤科确诊的22例儿童SWS患者临床表现及影像学资料,探讨SWS患儿鲜红斑痣沿面部三叉神经分布特征及颅脑影像学特点。结果:22例患儿中,男10例,女1...     

Sturge-Weber综合征1例

Sturge-Weber综合征(即脑-三叉神经血管瘤,简称SWS)是临床较为罕见的以颜面和颅内血管瘤为主要特征的先天性神经皮肤综合征.本病可引起多系统病变,临床上易漏诊,现报道1例.临床资料患者男,9岁.因颜面红斑伴癫痫发作9年就诊.患者出生后即发现右侧面颊部长有红色斑疹, 无自觉症状,红斑渐扩大至右侧额头鼻梁上唇部,颜色加深,未予特殊治疗,1岁后患儿不明原因出现抽搐,每次发作约持续3～5 min,在外院诊断为癫痫,给予抗癫痫药物(具体不详)治疗后,仍时有发作.     

Sturge-Weber综合征1例

Sturge-Weber综合征又名脑三叉神经血管瘤病,我们近期在门诊发现1例,报道如下.临床资料 患者男,42岁.左额、面部红斑伴发作性意识丧失40余年入院.患者足月顺产,出生时即见左侧眼睑和上额部暗紫红色斑片,红斑缓慢增大、颜色变深.患者8个月大时出现抽搐伴意识丧失,数分钟后可自行缓解,此后每年发作3～4次.     

Reiter综合征

患者男，35岁。主诉龟头反复糜烂6年满，关节疼痛2年半，全身皮疹4个月。1996年7月，患者因尿道流脓就诊于外地某医院，尿道分泌物涂片查到淋球菌，静脉滴注头孢拉定共15d后痊愈。此后不久，无明显诱因，龟头部出现红斑、糜烂，当地医院诊断为“龟头炎”，给予“抗生素”口服和外用可暂时缓解，但反复发作至今。约在2年前，患者出现颈部和右腕关节疼痛，     

变形综合征

报告1例变形综合征.患者男,42岁,具有偏侧肥大、巨趾、脊柱侧凸、线状表皮痣、淋巴管瘤等变形综合征的表现.文中对该病进行文献回顾性总结及对最新诊断标准进行讨论.     

Peutz-Jeghers综合征1例

患者男,32岁。口唇、口腔黏膜、手足出现褐色斑点24年。皮肤科检查示:唇部、颊黏膜、齿龈、双手指规则的黑色色素沉着斑。肠镜示多发息肉。诊断:Peutz-Jeghers综合征。     

Gorham综合征1例

患者，男性，15岁，因间断头疼，呕吐，胸闷入院，胸穿发现乳糜性胸水，脑脊液常规及生化检查正常，X线检查右锁骨部分缺如，右肩胛骨，左肱骨，颅底岩骨尖及斜坡骨质破坏。右锁骨残端活检示淋巴管增生。入院2周后出现右面部密集，白色，厚壁疱疹样皮损，皮损活检示表皮及真皮浅层数个毛囊肿。     

Bloom综合征1例

1　病例资料　患儿男 ,10岁。颧部反复出现红斑 9年。约 1岁时面部出现红斑 ,日晒后加重 ,无瘙痒。反复发作 ,夏重冬轻。患儿足月顺产 ,出牙、直立等生长发育均正常 ,但行走至今不稳。家族史 :父母非近亲结婚 ,健康 ,身高无异常。家族中无类似病史及其他遗传病史。体检 :发育差 ,对答切题 ,声调尖细。身高 10 9ｃｍ ,体重 16ｋｇ ,身材比例相称 ,四肢较细。双耳廓较大 ,竖起。皮肤科情况 :颧部对称性淡红斑 ,表面少量白色鳞屑、毛细血管扩张 ,并散在褐色粟粒大小斑疹。躯干、四肢未见咖啡斑、色素增深、色素减退斑及鱼鳞病样皮损 ,口唇未见…     

Sturge—Weber综合征

Sturge—Weber综合征是一种以面部毛细血管畸形、软脑膜血管瘤和眼血管畸形为特征的神经皮肤综合征。鲜红斑痣皮损累及整个三又神经眼支或双侧分布提示合并潜在的神经系统及眼的损害。增强核磁共振成像是诊断Sturge—Weber综合征最敏感的方法。治疗上,鲜红斑痣采用脉冲染料激光治疗,癫痫和青光眼采用药物或手术控制。     

Phacomatosis Pigmentovascularis Type IIb Associated with Sturge-Weber Syndrome and Pyogenic Granuloma

A case of phacomatosis pigmentovascularis (PPV) in a 6-year-old girl with Sturge-Weber syndrome, pyogenic granuloma, and other complications is described. It is relatively rare that a complete form of Sturge-Weber syndrome was associated with PPV. A review of the literature on PPV, focusing on total number of reported cases and etiological speculations, is presented. To our knowledge, a total of 118 cases of PPV, including the present one, have been reported to date. Regardless of many speculations, the true etiology remains unknown. The average “density” of mast cells (MCs) per mm² appearing in the central region of the pyogenic granuloma was calculated to be 86.3/mm² and that in the adjacent nevus flammeus was 37.9/mm². The “density” of mast cells in pyogenic granuloma separately calculated from ten other cases was 105.5 ± 28.6/mm² (mean ± SD), compared with that in normal skin, 6.85 ± 4.9/mm² (n=20). There was a significant difference between the two, indicating that MCs are closely associated with angiogenesis in pyogenic granuloma.     

斯一维二氏综合征(附二例报告)

斯(Sturge)一维(Weber)二氏综合征是皮肤科比较少见的一种先天性血管畸形疾病.现将所见两例报告如下.     

Sturge-Weber syndrome

Sturge-Weber syndrome is a sporadic neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal hemangioma) and leptomeningeal angioma. Although the precise pathogenesis is unknown, available data regarding genetics, embryogenesis, and pathologic features are briefly reviewed. Clinical features vary from mild incomplete forms to full-blown disease with facial stain, seizures, and glaucoma. Frequencies of associated complications are reviewed. To plan treatment and further follow-up, diagnosis of glaucoma and intracranial involvement, even if asymptomatic, is fundamental in children at risk. Early neuroimaging features are important to recognize. Management of patients with Sturge-Weber syndrome is focused on treating associated neurologic and ocular abnormalities.     

Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report

We describe here a Turkish girl with pigmentovascularis type 2b, consisting of disseminated Mongolian-spot-like maculae and unilateral Sturge-Weber angiomatosis.     

Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patient''s epilepsy episodes from his first year of life had been ignored and separated from the entity of SWS by his physicians, which led to delayed treatment. This case illustrates the importance of careful examination of patients of any age with hemangiomas in the trigeminal nerve with concomitant episodes of epilepsy. In such cases, there should be yearly neuroimaging screenings to guaranteed early interdisciplinary interventions from the time of definite diagnosis.