[Clinical characterization in patients with neurocutaneous syndrome].

Yazmin Hernández-Castañeda, Daniela Juárez-Melchor, Aurea Vera-Loaiza, Alan Alberto Pérez-Arzola, Israel Enrique Crisanto-López, Pablo Omar Rodríguez-Hurtado
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Abstract

Background: Neurocutaneous syndromes are a group of genetic diseases that affect the skin, eyes, central and peripheral nervous systems. They include Neurofibromatosis type 1 (NF1), Tuberous sclerosis (TS), Von-Hippel Lindau disease, Neurofibromatosis type 2 (NF2), Ataxia Telangiectasia (AT) and Hypomelanosis of Ito.

Objective: To characterize the most frequent clinical manifestations in Neurocutaneous syndromes.

Methods: A descriptive, observational, cross-sectional and ambivalent study was carried out in the Genetics service of the General Hospital of Zone No. 20. Patients diagnosed with any neurocutaneous syndrome of any age were included and agreed to participate in the study.

Results: Thirty-nine patients were reviewed, 21 patients (53.8%) were women and 18 (46.2%) were men. The median age of the patients was 12 years, with an interquartile range (25th-75th percentiles) of 6 and 17 years, respectively. The most frequent neurocutaneous syndromes were NF1 (62%) and ET (18%). All patients presented cutaneous manifestations, and 16 patients (42.1%) presented at least one neurological manifestation.

Conclusions: The timely interpretation of skin changes as primary lesions becomes a valuable instrument for the early identification of any neurological alteration; likewise, the search for skin changes should be carried out in all patients undergoing initial study for neurological manifestations.

【神经皮肤综合征患者的临床特点】。
背景:神经皮肤综合征是一组影响皮肤、眼睛、中枢和周围神经系统的遗传性疾病。它们包括1型神经纤维瘤病(NF1)、结节性硬化症(TS)、Von-Hippel Lindau病、2型神经纤维瘤病(NF2)、共济失调毛细血管扩张症(AT)和伊藤低黑素症。目的:探讨神经皮肤综合征最常见的临床表现。方法:采用描述性、观察性、横断面性和矛盾性的方法对20区总医院遗传科进行调查。任何年龄的诊断为任何神经皮肤综合征的患者都被纳入并同意参与研究。结果:39例患者中,女性21例(53.8%),男性18例(46.2%)。患者年龄中位数为12岁,四分位数间距(25 -75百分位数)分别为6岁和17岁。最常见的神经皮肤综合征是NF1(62%)和ET(18%)。所有患者均有皮肤表现,16例患者(42.1%)至少有一种神经系统表现。结论:及时解释皮肤变化为原发性病变成为早期识别任何神经系统改变的有价值的工具;同样,在所有接受神经系统表现初步研究的患者中,应寻找皮肤变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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