Sendrasoa Fandresena Arilala, Rasoarisata Aurélie, Ramarozatovo Lala Soavina, Rapelanoro Rabenja Fahafahantsoa
Département de dermatologie, Centre hospitalier universitaire Joseph Raseta Befelatanana, Antananarivo, Madagascar.
Med Trop Sante Int. 2022 May 27;2(2). doi: 10.48327/mtsi.v2i2.2022.247. eCollection 2022 Jun 30.
Neurofibromatosis 1 (NF1) is an inherited disease, in an autosomal dominant manner, with complex multi-system involvements. Prevalence varies from one country to another. However, little is known about neurofibromatosis in African countries, particularly in Madagascar.
A descriptive retrospective study from 2014 to 2019 was conducted at the service of dermatology at University Hospital Joseph Raseta Befelatanana in Antananarivo, including all patients with neurofibromatosis according to National Institutes of Health Consensus Conference criteria for whom genealogical investigation could be made.
Among 32 cases of NF1 seen during 6 years, 28 cases were included with a sex ratio M/F of 0.87. The mean age was 24 years ranging from 11 to 54 years. Seventeen patients presented sporadic forms. All patients had "café au lait" spots and cutaneous neurofibromatosis. Three cases presented plexiform neurofibromas which cause significant cosmetic and functional problems by their size and their displayed topography. Fifteen patients had Lisch nodules but no case of optic glioma was identified. Neurological symptoms such as learning difficulties, epilepsy and headache were frequent in our case series. However, access to medical imaging was very limited. Scoliosis was the most common orthopedic complication.
The clinical manifestations of NF1 are extremely variable. Although the possibility of systemic complications seems to be low, patients must be followed up.
神经纤维瘤病1型（NF1）是一种常染色体显性遗传疾病，累及多个系统。其患病率因国家而异。然而，非洲国家，特别是马达加斯加，对神经纤维瘤病的了解甚少。
在塔那那利佛的约瑟夫·拉塞塔·贝费拉塔纳纳大学医院皮肤科进行了一项2014年至2019年的描述性回顾性研究，纳入了所有符合美国国立卫生研究院共识会议标准且可进行家谱调查的神经纤维瘤病患者。
在6年中所见的32例NF1病例中，纳入了28例，男女比例为0.87。平均年龄为24岁，范围在11至54岁之间。17例患者为散发型。所有患者均有“牛奶咖啡斑”和皮肤神经纤维瘤。3例出现丛状神经纤维瘤，因其大小和位置给患者带来了严重的美容和功能问题。15例患者有Lisch结节，但未发现视神经胶质瘤病例。在我们的病例系列中，学习困难、癫痫和头痛等神经症状很常见。然而，医学影像检查的机会非常有限。脊柱侧弯是最常见的骨科并发症。
NF1的临床表现极为多样。尽管全身并发症的可能性似乎较低，但仍需对患者进行随访。
