Huson S M, Harper P S, Compston D A
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
Brain. 1988 Dec;111 ( Pt 6):1355-81. doi: 10.1093/brain/111.6.1355.
A population-based study in south-east Wales (population 668,100) identified 135 patients with von Recklinghausen neurofibromatosis (prevalence 20/10(5]. In addition to multiple café-au-lait spots and/or dermal neurofibromas, freckling was present in the axilla (67%), groin (44%) or submammary areas (29% of adult females). Although not a criterion for diagnosis, Lisch nodules were almost invariably present in the iris (93% of patients overall; 96% of those aged greater than or equal to 20 yrs). The complications of von Recklinghausen neurofibromatosis in this cohort (n = 135 unless stated) were plexiform neurofibromas (40/125), severe mental retardation (1), epilepsy (6), optic glioma (2), spinal neurofibroma (2), aqueduct stenosis (2), meningioangiomatosis (1), scoliosis requiring surgery (6), pseudoarthrosis (3), delayed puberty (2), visceral and endocrine tumours (6), and congenital glaucoma (1). There were no cases of acoustic neuroma. Considering all living family members aged greater than or equal to 18 yrs, together with their deceased relatives, the frequency of CNS and malignant tumours related to the disease was 4.4-5.2%. Uncomplicated von Recklinghausen neurofibromatosis is disfiguring but not a major cause of morbidity. The management of the disease relates to its complications which can be divided into three categories: those which occur in childhood and cause lifelong morbidity (moderate-severe mental handicap, facial plexiform neurofibromas, orthopaedic), those which can occur at any time but are 'treatable' (benign disorders of the nervous system, visceral and endocrine tumours, renal artery stenosis), and malignant or CNS tumours. The combined frequency for each category based on this survey was 12%, 16% and 4.4-5.2%, respectively.
一项基于威尔士东南部地区（人口668,100）的研究，共识别出135例冯·雷克林霍增氏神经纤维瘤病患者（患病率为20/10⁵）。除了多发性咖啡牛奶斑和/或皮肤神经纤维瘤外，腋窝（67%）、腹股沟（44%）或乳腺下区域（成年女性的29%）出现雀斑。虽然不是诊断标准，但虹膜几乎总是存在Lisch结节（总体患者中的93%；年龄大于或等于20岁患者中的96%）。该队列中冯·雷克林霍增氏神经纤维瘤病的并发症（除非另有说明，n = 135）包括丛状神经纤维瘤（40/125）、重度智力迟钝（1例）、癫痫（6例）、视神经胶质瘤（2例）、脊髓神经纤维瘤（2例）、导水管狭窄（2例）、脑膜血管外皮细胞瘤（1例）、需要手术治疗的脊柱侧弯（6例）、假关节（3例）、青春期延迟（2例）、内脏和内分泌肿瘤（6例）以及先天性青光眼（1例）。未发现听神经瘤病例。考虑到所有年龄大于或等于18岁的在世家庭成员及其已故亲属，与该疾病相关的中枢神经系统和恶性肿瘤的发生率为4.4 - 5.2%。无并发症的冯·雷克林霍增氏神经纤维瘤病会导致身体外形受损，但并非发病的主要原因。该疾病的治疗与并发症相关，并发症可分为三类：发生在儿童期并导致终身发病的（中度至重度智力障碍、面部丛状神经纤维瘤、骨科疾病）、可在任何时候发生但“可治疗”的（神经系统良性疾病、内脏和内分泌肿瘤、肾动脉狭窄）以及恶性或中枢神经系统肿瘤。基于本次调查，每类并发症的综合发生率分别为12%、16%和4.4 - 5.2%。
