神经皮肤综合征（neurocutaneous syndr

神经皮肤综合征（neurocutaneous syndromes），又称斑痣性错构瘤病（phakamatoses），这是先天性前脑（forebrain）背部中央一部分，外胚层（ecroderma）细胞增生、发育异常，而形成的一类神经、皮肤综合病征。包括40余种，其中最常的是结节性硬化，病人常有癫癎发作。病因：本病因9q34(TSC1)或16P13.3（TSC2）基因缺陷致错构素或结节素（tuberin）形成不良所致。患病率1/万~1/1.7万，男多于女。属常染色体显性（AD）遗传病双亲中至少一人是杂合子患者，其子女患同病的机率是1／2余1／2正常临床表现病人常有癫癎发作，大部分以癫癎起病，而由医生体检确定为本病。癫癎表现为婴儿痉挛，局灶性发作及全身强直-阵挛等。同时常有不同程度智力低下。检查主要表现为皮损，难治性癫癎及智力低下。出生后即可有皮肤色素脱失斑年长后有增大、增多趋势。4岁后90%有面部皮脂腺瘤，实际上系面部血管纤维瘤。前额可有斑块。皮肤上还常有咖啡牛奶斑（>；0.5 cm×6个）。10岁后常有沙鱼斑。指甲可有多发性纤维瘤。大脑有皮质结节室管膜下结节，因而脑CT能证实脑室周围多发性钙化斑(但MRI可漏诊)。脑室周围星形细胞瘤眼底可发现多发星形细胞瘤错构瘤，无色性斑块，钙化斑，视野缺损，视神经萎缩。内脏损害包括心脏横纹肌瘤。肺脏淋巴血管肌瘤病（1%），因而可有咯血，肾脏血管肌脂瘤、肾囊肿。肝脾错构瘤。阴道口、子宫肌瘤。

神经纤维瘤病（neurofibromatosis， Von Recklinghausen disease， 1882）

致病基因（pathogenic gene:NF1）定位于17q11、2致神经纤维素（neurofibromin）生成障碍。NF2位于22q12致Merlin生成障碍而发病，AD遗传，I型病人有牛奶咖啡斑(青春期>；15mm)，腋下、腹股沟雀斑（freckling），进行性皮肤多发作纤维瘤样结节，骨发育不良（bone dysplasia），长骨骨皮质变薄及视神经胶质瘤，虹膜错构瘤等。II型病人有双侧听神经瘤、脑膜瘤、神经鞘瘤、神经胶质瘤、晶体混浊等。因而常伴发癫癎。

脑三叉神经血管瘤病（encephalotrigiminal angiomatosis， Sturge-Weber-Dimitri syndrome：1847）

常染色体隐性（AR）遗传，基因尚未定位，病人有三个类型，常有面部三叉神经分布区域的血管痣（vascular nervus），2岁后易有对侧（contralateral）癫癎、偏瘫、肌肉萎缩、青光眼（glaucoma）以及智力低下等。脑内软脑膜可有血管瘤，脑CT可发现颅内钙化斑。

失禁失调症（incontinentia pigmenti）

致病基因定位于Xq28呈性染色体显性(XD)遗传，男性患病为主。女性散在性病例为XP11、21所致，病人生后有皮肤复发作、浅形大小疱性皮损，色素沉着以及角质生成障碍，20%伴癫癎，瘫痪及智力低下等。65%血中嗜酸性粒细胞增多（eosinophilia）。

The neurocutaneous syndromes are characterized by congenital dysplastic abnormalities involving the skin and nervous system。

Neurocutaneous syndromes are congenital or hereditary conditions that have many features in common:hereditary transmission， involvement of organs of ectodermal origin (nervous system， eyeball， retina， and skin)， slow evolution of lesions in childhood and adolescence， and disposition to fatal malignant transformation. Except for Sturge- Weber syndrome， these major neurocutaneous syndromes are genetically determined， although sporadic cases can occur. The clinical features of the more common neurocutaneous syndromes， including tuberous sclerosis complex， neurofibromatosis， Sturge-Weber syndrome， Ehlers-Danlos syndrome， and von Hippel-Lindau disease.

The term "；neurocutaneous syndrome"； encompasses a group of multisystem， hereditary disorders that are associated with skin manifestations as well as central and/or peripheral nervous system lesions of variable severity. This review outlines the central nervous system tumors associated with underlying neurocutaneous disorders， including neurofibromatosis type 1， neurofibromatosis type 2， schwannomatosis， tuberous sclerosis complex， Von Hippel Lindau， and nevoid basal cell carcinoma syndrome. Recognizing the presence of an underlying syndrome is critically important to both optimizing clinical care and treatment as well as genetic counseling and monitoring of these affected patients and their families.

Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition， diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence of epilepsy of 78%， the majority presenting under the age of 12 months， with a high association between the occurrence of seizures and the presence of learning disability. Although an apparent multifocal disease， surgery may have a role to play where seizures are demonstrated to probably arise from a single tuber. Other less common neurocutaneous syndromes also have a high prevalence of epilepsy in association with cerebral malformations； unilateral or lobar malformations should be referred early for surgical consideration. Neurofibromatosis is the second most common of the disorders but the prevalence of epilepsy in this population is relatively low； in addition， a greater proportion may be easier to treat with medication.