Pastar Zrinjka, Lipozencić Jasna, Budimcić Dragomir, Tomljanović-Veselski Mirna
Health Department, Ministry of Defense, Zagreb University Hospital Center, Zagreb, Croatia.
Acta Dermatovenerol Croat. 2006;14(3):167-71.
Neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation in the individual's genes. We report on seven cases of type 1 neurofibromatosis (NF1) diagnosed from 2001 to 2006 at our Department. There were four female and three male patients, mean age 46.1 and 49 years, respectively. All patients showed neurofibromas accompanied by fibromas, café au lait spots, cases showed five axillary freckling (lentigines) and one case showed five plexiform neurofibromas and pruritus belonging to NF1 category. All patients had affected first degree relatives. Systemic findings were rare and included optic glioma in one case and Lisch hamartoma nodules in three cases. In all cases, the diagnosis was established according to the National Institutes of Health criteria, including at least two of the diagnostic criteria for NF1 diagnosis. None of our cases had malignancies or gastrointestinal tract involvement.
神经纤维瘤病是一种神经系统的遗传性疾病，主要影响神经（神经）细胞组织的发育和生长。这些疾病会导致神经上长出肿瘤，并产生其他异常情况，如皮肤变化和骨骼畸形。虽然许多患者是遗传了这种疾病，但30%至50%的新病例是由于个体基因的自发突变引起的。我们报告了2001年至2006年在我们科室诊断出的7例1型神经纤维瘤病（NF1）。有4名女性和3名男性患者，平均年龄分别为46.1岁和49岁。所有患者均表现为神经纤维瘤伴有纤维瘤、咖啡斑，5例有腋窝雀斑（雀斑样痣），1例有5个丛状神经纤维瘤且伴有瘙痒，均属于NF1类别。所有患者均有一级亲属患病。全身检查结果罕见，1例有视神经胶质瘤，3例有Lisch错构瘤结节。在所有病例中，均根据美国国立卫生研究院的标准进行诊断，包括至少两条NF1诊断的标准。我们的病例均无恶性肿瘤或胃肠道受累情况。
