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。     

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...     

Klippel-Trenaunay综合征

Klippel-Trenaunay(KT)综合征是一种少见疾病,以血管畸形、静脉曲张和软组织及骨肥大三联征为主要表现。血管畸形中最常见的是葡萄酒色斑(鲜红斑痣),由以下肢多见。当合并动静脉瘘时,被称为Klippel-Trenaunay-weber综合征或Parkes-Weber综合征。其病因为PIK3CA基因突变。治疗是一个长期复杂的过程,需多学科联合管理,目前主要是对症处理。随着分子诊断技术的发展,基因靶向治疗是一种研究方向。     

鲜红斑痣的光动力治疗

鲜红斑痣是一种好发于头面部等暴露部位的先天性真皮层毛细血管网进行性扩张畸形,严重影响患者的生活质量.脉冲染料激光作为鲜红斑痣治疗的标准手段,其完全清除率并不高.光动力疗法以光、光敏剂和氧的相互作用为基础,利用光动力效应破坏畸形的血管组织,成为治疗鲜红斑痣安全有效的新手段,具有很好的应用前景.光动力治疗鲜红斑痣,光敏剂和光源的选择对疗效和不良反应有很大的影响,其作用机制尚待深入研究.     

激光联合外用血管生成抑制剂治疗鲜红斑痣

鲜红斑痣是一种发生在真皮浅层的先天性毛细血管后微静脉扩张畸形。脉冲染料激光是目前治疗鲜红斑痣的标准方法,对各种不同类型的鲜红斑痣均能达到一定程度的褪色,但对大部分鲜红斑痣仍需多次治疗或采取综合疗法,并存在着治疗后色斑复发或加深的现象。近期有学者提出,鲜红斑痣激光成功治疗后的复发或色斑加深,是由于光热作用诱导的人体伤口正常修复反应而导致的新生血管增生,并尝试在激光治疗后辅助外用血管生成抑制剂,如咪喹莫特和雷帕霉素。本文结合多年临床治疗经验和文献资料简要介绍并讨论相关的新进展。     

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。     

鲜红斑痣的治疗进展

鲜红斑痣是由皮肤毛细血管扩张及畸形形成的,组织学研究未发现细胞增殖,在新生儿中的发病率为0.3%～0.5%.鲜红斑痣不会自行消退,近10年来脉冲激光与光子治疗技术使鲜红斑痣的治疗取得长足的进步,但疗效仍不尽人意,只有大约10%的患者能获得完全清除.综述近年来国际上对鲜红斑痣治疗方面的新进展及影响疗效的一些因素,为提高治愈率和减少副作用提供借鉴.     

激光治疗鲜红斑痣和血管瘤及其研究进展

脉管性疾病包括脉管畸形和血管瘤,表现为毛细血管和毛细血管后静脉畸形的鲜红斑痣是最常见的脉管畸形,其次还有动静脉畸形、淋巴管畸形等。脉冲染料激光是鲜红斑痣治疗的金标准,长脉宽1 064nm Nd:YAG激光也是很多血管瘤治疗的选择。文中就脉管性疾病激光治疗的原理、疗效、不良反应及研究进展进行阐述,以期为皮肤科临床医师提供参考。     

Sturge-Weber综合征伴发白内障及晶体后退一例报告

Sturge-Weber综合征伴发白内障及晶体后退尚未见类似报告,现报告如下.     

Acral arteriovenous tumor developed within a nevus flammeus in a patient with Sturge-Weber syndrome

The Sturge-Weber syndrome consists of a large facial nevus flammeus in the distribution of the ophthalmologic division of the trigeminal nerve accompanied by ipsilateral leptomeningeal angiomatosis. Usually, when angiomatous nodules develop in a nevus flammeus of a patient with Sturge-Weber syndrome they are pyogenic granulomas. We describe an acral arteriovenous tumor developed within the nevus flammeus of a patient with Sturge-Weber syndrome. To our knowledge, acral arteriovenous tumor has not been previously described in the cutaneous vascular malformation of patients with Sturge-Weber syndrome. The development of acral arteriovenous tumor within the vascular malformation of a nevus flammeus in this patient with Sturge-Weber syndrome probably results from a vascular proliferation secondary to underlying arteriovenous shunts.     

Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.     

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.     

Sturge-Weber syndrome in patients with facial port-wine stain

Facial port-wine stain (PWS) may be associated with cerebrovascular abnormalities such as Sturge-Weber syndrome (SWS). In a large series, we aimed to assess which topography of facial PWS can predict SWS. This was a cross-sectional study of consecutive patients with facial PWS seen in pediatric dermatologic or angiodysplasia consultations from 1993 to 2005 at the University Hospital Center of Tours. A standardized form was used to collect data on clinical and imaging findings. Patients with and without SWS were compared in terms of topography of the cutaneous angioma and related ophthalmologic and neurologic features. Two hundred fifty-nine patients were included, 15 with a diagnosis of SWS. All patients with SWS showed involvement of the V1 trigeminal cutaneous area. SWS was significantly associated with bilateral topography of the PWS, its extension to another territory, and involvement of the upper eyelid. Knowledge of the topography of facial PWS with risk of associated neurological or ocular anomalies allows for early diagnosis of SWS and avoids unnecessary and costly radiography for patients with uncomplicated facial PWS.     

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 type IIb associated with Sturge-Weber syndrome

We describe a 23-month-old child with phakomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome. Phakomatosis pigmentovascularis type IIb is a rare cutaneous malformation characterized by the simultaneous occurrence of nevus flammeus and melanocytic nevi. A brief review of the literature is presented and classification of this rare disease is discussed.     

Ocular Manifestations of the Neurocutaneous Syndromes

Ocular involvement occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic eye lesions in the context of related skin and systemic abnormalities may be crucial to making the diagnosis of a neurocutaneous syndrome. Ocular disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. All clinicians involved in the care of patients with neurocutaneous syndromes should have some familiarity with their ophthalmologic aspects. This review deals with ocular manifestations of neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, ataxia telangiectasia, and Bloch-Sulzberger syndrome. Clinical signs and symptoms, differential diagnosis, and natural history are considered in detail, with brief discussion of pathophysiology and management. No specialized knowledge of eye disease in general is presumed.     

Overlap of sturge-weber syndrome and klippel-trenaunay syndrome

Sturge-Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel-Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge-Weber syndrome in combination with Klippel-Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.