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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Von recklinghausen disease: one patient a?? various problems
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Von recklinghausen disease: one patient a?? various problems

机译：冯·瑞克林豪森病：一名患者各种问题

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von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well known to be a tumor suppressor factor. This counteracts possible overactivity of RAS (protein)/MAPK (mitogen-activated protein kinase) and RAS/PI3K/AKT/mTOR (phoshatydyloinositol-3-kinase/V-akt murine thy-moma viral oncogene homologue/mammalian target of rapamycin) signaling transduction pathways, preventing from uncontrolled cell proliferation and subsequent tumor formation. A loss of proper functioning of this protein leads to a development of vRD; however, a large variability in a phenotype of the disease and the onset of cutaneous findings, not necessarily in childhood, may provide a clinical diagnosis of the disease late in adulthood. We present a 52-year-old male in whom the diagnosis of vRD was proposed in the sixth decade of life, despite of multiple nodular lesions disseminated over the skin of the whole body and different neurological disturbances, not considered for a long time as manifestations of genodermatosis.
机译：von Recklinghausen病（vRD），更广泛地称为1型神经纤维瘤病，属于一组遗传疾病，被认为是最常见的遗传性皮肤病。该疾病具有遗传的常染色体显性遗传模式，涉及位于基因座11.2中17号染色​​体上的NF1基因内的突变。 NF1基因的产物是神经纤维蛋白，众所周知该蛋白是肿瘤抑制因子。这抵消了RAS（蛋白质）/ MAPK（促分裂原激活的蛋白激酶）和RAS / PI3K / AKT / mTOR（磷脂酰肌醇3-激酶/ V-akt鼠胸腺瘤病毒致癌基因同源物/雷帕霉素的哺乳动物靶标）信号转导的过度活性转导途径，防止不受控制的细胞增殖和随后的肿瘤形成。该蛋白功能的丧失导致vRD的发展;但是，该疾病的表型和皮肤病的发作（不一定在儿童时期）存在很大的变异性，可以为成年后期提供该疾病的临床诊断。我们提出了一个52岁的男性，尽管在整个身体的皮肤上散布了多个结节性病变以及不同的神经系统疾病，但长期以来并未考虑将其诊断为vRD是在生命的第六十年皮肤病。

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