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叉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

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。     

儿童斯特奇-韦伯综合征计算机断层扫描与磁共振成像对照研究

目的:回顾性分析36例3 d～11岁斯特奇-韦伯综合征(SWS)患儿计算机断层扫描(CT)和磁共振成像(MRI)影像学表现。方法:收集该院36例SWS患儿,其中34例予CT扫描,29例予MRI检查,27例同时予CT及MRI检查。其中CT增强扫描1例,MRI增强扫描3例。结果:36例患儿中19例并发面部血管瘤。4例病变累及双侧大脑半球,其余32例均为单侧发病。(1)CT表现为灰、白质分界不清的稍高密度灶者8例;病变脑叶内磨砂样及斑点状钙化者3例;病灶斑片状及线样钙化者8例,典型脑回样钙化者13例;上述32例病变区域均伴有不同程度脑萎缩。CT扫描未见明显异常者1例;CT增强扫描1例示病变区域脑表面软脑膜弥漫样强化。(2)MRI表现为病变区域不同程度脑萎缩,其中26例T2加权像(T2WI)表现为灰、白质分界不清的低或稍低信号(其中漏诊1例),3例T2WI表现为斑点状稍高信号。脉络丛扩大12例,14例可观察到颅板下、中线旁、患侧脑室旁的血管流空信号。3例增强扫描表现为沿皮层走行软脑膜弥漫样强化。(3)27例患儿同时予CT与MRI检查结果:CT结果阴性患儿MRI示T2WI表现为典型灰、白质分界不清的低或稍低信号;MRI漏诊患儿1例,CT上病变区表现为斑片状钙化。结论:CT和MRI检查对SWS诊断提供了重要的影像学诊断依据,都具有较为典型的影像学表现,CT与MRI联合应用可以相互补充,提供更多及更加准确的影像学信息,协助临床对SWS诊断;增强检查可明确诊断并确定病变范围。     

儿童色素血管性斑痣性错构瘤病18例临床分析

目的:探讨儿童色素血管性斑痣性错构瘤病(phakomatosis pigmentovascularis,PPV)的临床特征。方法:对临床确诊的18例儿童PPV的资料进行回顾性总结,分析其临床特点、分型及治疗随访情况。结果:男女均可发病,以女性患儿多见,平均年龄2.8岁。鲜红斑痣是最常见的血管性改变,太田痣并发蒙古斑为最常见的色素性改变,血管和色素的嵌合为棋盘样模式。根据最新的Happle分型方法分类,Cesioflanmea型17例,Melanorosea型1例。8例患儿有系统受累。3例患儿的面部皮损行激光治疗,疗效显著。结论:儿童PPV应全面体检和长期随访,血管和色素性皮损可尽早行激光治疗。     

儿童脑回状皮脂腺痣14例临床分析

【摘要】 目的 探讨脑回状皮脂腺痣的临床表现、病理特征及手术时机。方法 回顾2014年6月至2019年12月北京儿童医院皮肤科诊治的14例脑回状皮脂腺痣患儿的临床特点、组织病理学特征以及手术治疗时机。结果 14例患儿中男10例,女4例,出生即有皮损,单发且位于头面部,外观与脑回结构相似,平均直径4.79 cm。所有患儿系统检查均无异常。组织病理：具有明显宽大的乳头瘤样增生,伴增生的皮脂腺及不成熟的毛囊。14例患儿均行手术治疗,平均手术年龄1.94岁。术后随访半年至6年,均无复发。结论 脑回状皮脂腺痣具有独特的脑回状外观,多位于头面部,易引起重视从而选择更早进行手术治疗。     

骨肥大静脉曲张性痣综合征伴血管角皮瘤1例

骨肥大静脉曲张性痣综合征是一组以皮肤血管痣，静脉曲张，患侧组织特别是骨组织的增长，增粗为特征的综合征，其发病机制可能与先天性局部血管发育异常有关，我科诊治1例典型先天性骨肥大静脉曲张性痣综合征合并血管角皮瘤患儿，现报告如下。     

Klippel-Trenauney综合征1例

报告1例Klippel-Trenauney综合征。患儿男,13岁。左下肢粗大13年,左踝部反复溃疡10年。有典型的鲜红斑痣、静脉曲张、软组织和骨肥大,患侧下肢继发淤积性溃疡,下肢血管超声检查未见动静脉瘘。诊断为Klippel-Treranney综合征。     

表皮痣综合征并发病态窦房结综合征1例并文献复习

报告1例表皮痣综合征并发病态窦房结综合征。患儿女,6岁。出生后头部、面部、颈部、躯干及双足可见褐色斑块,皮损渐增大。皮肤科检查:头部、面部、颈部、躯干及双足可见带状及斑片状褐色疣状丘疹和斑块,部分沿Blaschoko线分布;口唇、颊黏膜及上颚可见疣状斑块。皮损组织病理检查:表皮角化过度,棘层增厚,表皮突延长,基底细胞色素增加;真皮浅层小血管周淋巴细胞浸润。心脏彩超提示窦房结功能障碍,存在慢快综合征。诊断:表皮痣综合征并发病态窦房结综合征。     

泛发性巨大疣状痣1例

患儿男，5个月，因头面部，背部起疣状增生物5个月，于2003年3月6日来我科就诊。患儿出生时上述部位即有皮损，随着年龄增长皮损不断扩大、增厚、增多。枕部、颈部、面部、背部及下颌也出现皮损，皮损沿同侧头部、枕部、面部呈带状及片状纵向分布，表面呈疣状，由于皮疹广泛并伴瘙痒，患儿常摩擦、哭闹等，影响正常生活。家族中无类似病史，其母孕4产2。     

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.     

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.     

Treatment of facial port-wine stains with intense pulsed light: a prospective study

Background  Intense pulsed light (IPL) has been used for the treatment of port-wine stains for 10 years. There are many IPL systems that have different setting. Some of them have been reported in the treatment of fresh or laser-resistant port-wine stains localized in different body regions.
Objective  Our aim was to conduct a prospective trial to assess the effectiveness of Lynton (The Lumina Family of Medical Flashlamp Systems) of the IPL family in the treatment of fresh facial port-wine stains.
Material and methods  Twelve patients with facial and/or neck port-wine stains without previous treatment were enrolled in the trial. Patient demographics, treatment setting, outcome of clearing, and treatment complications were noted.
Results  The treatment intervals were 4 to 6 weeks for three to six treatment sessions. Moderate improvement (50–75%) was achieved in 47% of the patients. Complete clearing was seen in only one patient (8.3%) after four treatment sessions. Hypertrophic scar formation in two patients occurred after healing blister. Except for the side effects, long-term complications were not seen.
Conclusion  Moderate effectiveness was achieved with IPL treatment in the facial port-wine stains.     

Port-wine-stain-associated dermatitis: implications for cutaneous vascular laser therapy

Abstract:  Port-wine stains are congenital vascular malformations affecting 0.3% to 0.5% of infants. Dermatitis occurring exclusively or most severely within port-wine stains has been described in the literature. Traditionally, topical corticosteroid therapy has been used for the treatment of dermatitis, while pulseddye laser treatment is considered a safe and effective means of lightening the appearance of congenital port-wine stains. To describe the development of port-wine stain-associated dermatitis as well as a rational treatment approach to these patients, we studied three children with facial, limb, or truncal port-wine stains who developed dermatitis within the congenital vascular malformation either prior to or during treatment with pulseddye laser. Laser therapy of dermatitis-affected areas was subsequently deferred pending resolution of the dermatitis with topical corticosteroid or topical calcineurin inhibitor treatment. While pulseddye laser therapy is an effective means of lightening port-wine stains and achieving lasting resolution of any associated dermatitis, this therapy to dermatitis-affected areas should be postponed until the inflammation resolves to minimize the risk of laser-associated adverse effects.     

Flashlamp-pumped pulsed dye laser for port-wine stains in infancy: earlier versus later treatment

Twelve children, 6 to 30 weeks of age (average 14.9 weeks), with port-wine stains of the head and neck were treated with the flashlamp-pumped pulsed dye laser at 585 nm and 450 microsecond pulse duration. Ten of 12 patients (83%) showed more than 50% lightening of their port-wine stains after 2.9 treatment sessions (2.9 +/- 1.4 [+/- standard deviation]). Forty-five percent of the patients demonstrated 75% or more lightening of their lesions after a mean of 3.8 treatments (+/- 1.6). No lesions in this group cleared completely after a mean of 2.8 treatments. Treated skin was identical in texture to normal skin in all patients. There was no evidence of depressed scars, atrophy, hyperpigmentation, or hypopigmentation in the treated areas. These results indicate that pulsed dye laser treatment of port-wine stains can be undertaken safely in infancy.     

Neurologic Abnormalities in Two Patients with Facial Hemiatrophy and Sclerosis Coexisting with Morphea

Abstract: Progressive facial hemiatrophy or Parry-Romberg syndrome is a rare entity characterized by unilateral atrophy of the skin, subcutaneous tissue, and the underlying bony structures. This syndrome has many features of linear scleroderma en coup de sabre but is distinguished by more extensive involvement of the lower face and by only slight cutaneous sclerosis. We describe two unusual children with both atrophic and sclerotic changes of half of the face coexisting with multiple plaques of typical morphea. Both children developed neurologic disturbances with cranial magnetic resonance imaging (MRI) abnormalities 2 years and 15 years, respectively, after the onset of cutaneous lesions. Thus considering that it may not be possible to correlate impairment in neurologic function and cutaneous disease, as illustrated by our patients, we emphasize the importance of an accurate follow-up.