1型神经纤维瘤病——一例临床病例报告和治疗回顾

Q4 Medicine

Rwanda Medical Journal Pub Date : 2022-12-31 DOI:10.4314/rmj.v79i4.9

C. Muhizi, H. Irere, B. Tuyishimire, A. Ndatinya, O. Karangwa, F. Rutarama, L. Mutesa, C. Nsanzabaganwa

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引用次数: 0

摘要

1型神经纤维瘤病(NF1)或Von Recklinghausen病，是一种罕见的遗传性疾病，以神经和皮肤多发良性肿瘤(神经纤维瘤)和皮肤装饰为特征。然而，它是多系统的，可以影响身体的每个器官，导致衰弱的影响。临床病例:我们提出一个18岁的女孩与NF1的情况。本病发病于儿童期3岁，表现为皮肤色素沉着。她的母亲也表现为面部和躯干多发结节，她的弟弟据报有弥散性斑疹。她在学校表现不佳，月经也推迟了。结论:虽然可以进行基因检测和确认，但NF1仍然是一种临床诊断，需要多学科团队进行管理

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Neurofibromatosis type 1 – A clinical case report and management review

INTRODUCTION: Neurofibromatosis Type 1 (NF1) or Von Recklinghausen’s disease, is a rare genetic disease characterized by multiple benign tumors of nerves and skin (neurofibromas), and skin decorations. However, it is multisystem and can affect each organ in the body, leading to debilitating effects.CLINICAL CASE: We present a case of an 18-year-old girl with NF1. The disease onset started in childhood at the age of 3 years with the appearance of hyperpigmented skin macules. Her mother also presented with multiple nodules on the face and trunk, and her little brother was reported to have disseminated macules. She had poor performance at school and delayed menses. The diagnosis of NF-1 was made, and a multidisciplinary team was involved in management of the patientCONCLUSION: Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis and requires management by multidisciplinary team

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来源期刊

Rwanda Medical Journal Medicine-Medicine (all)

CiteScore

0.20

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： The Rwanda Medical Journal (RMJ), is a Not-For-Profit scientific, medical, journal that is published entirely online in open-access electronic format. The RMJ is an interdisciplinary research journal for publication of original work in all the major health disciplines. Through a rigorous process of evaluation and peer review, The RMJ strives to publish original works of high quality for a diverse audience of healthcare professionals. The Journal seeks to deepen knowledge and advance scientific discovery to improve the quality of care of patients in Rwanda and internationally.