Darrigo Luiz G, Geller Mauro, Bonalumi Filho Aguinaldo, Azulay David R
Universidade de São Paulo (USP), São Paulo, SP, Brazil.
J Pediatr (Rio J). 2007 Nov-Dec;83(6):571-3. doi: 10.2223/JPED.1718. Epub 2007 Nov 30.
To assess prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis and its malignant potential.
A retrospective study was conducted through analysis of the database at Centro Nacional de Neurofibromatose [Brazilian Neurofibromatosis Center], collected from the following reference services between 1996 and 2004: Instituto de Dermatologia Prof. Rubem David Azulay da Santa Casa de Misericórdia do Rio de Janeiro, Instituto de Pediatria e Puericultura Martagão Gesteira da Universidade Federal do Rio de Janeiro and Department of Immunology and Microbiology at Faculdade de Medicina de Teresópolis.
Over that period, 104 patients aged between 1-17 years were admitted with clinical diagnosis of type I neurofibromatosis. Of these, 53 were male and 51 were female, and 28 patients (15 male and 13 female) had plexiform neurofibroma (26.9%). Division by age group resulted in 21.42% (six) between 1-5 years; 35.71% (10) between 6-12 years and 42.85% (12) between 13-17 years. Of the 104 patients, two developed a malignant peripheral nerve sheath tumor (1.92%).
Plexiform neurofibromas are relatively common manifestations in patients with type I neurofibromatosis and may be a cause of significant increase in morbidity and mortality among patients. In this study, we conclude that frequency of plexiform neurofibroma and its malignant potential in the population studied is in agreement with data from the international literature.
评估I型神经纤维瘤病患儿及青少年中丛状神经纤维瘤的患病率及其恶变潜能。
通过分析巴西国家神经纤维瘤病中心（Centro Nacional de Neurofibromatose）的数据库进行一项回顾性研究，该数据库收集了1996年至2004年间以下参考机构的数据：里约热内卢仁慈圣母医院鲁本·大卫·阿祖莱皮肤科研究所、里约热内卢联邦大学马尔塔冈·热斯泰拉儿科与儿童保健研究所、特雷索波利斯医学院免疫学与微生物学系。
在该时期，104例年龄在1至17岁之间的患者因I型神经纤维瘤病的临床诊断入院。其中，男性53例，女性51例，28例患者（男性15例，女性13例）患有丛状神经纤维瘤（26.9%）。按年龄组划分，1至5岁之间为21.42%（6例）；6至12岁之间为35.71%（10例）；13至17岁之间为42.85%（12例）。在这104例患者中，2例发生了恶性外周神经鞘瘤（1.92%）。
丛状神经纤维瘤是I型神经纤维瘤病患者相对常见的表现，可能是患者发病率和死亡率显著增加的原因。在本研究中，我们得出结论，在所研究人群中丛状神经纤维瘤的发生率及其恶变潜能与国际文献数据一致。
