Akesson H O, Axelsson R, Samuelsson B
Acta Genet Med Gemellol (Roma). 1983;32(3-4):245-9. doi: 10.1017/s0001566000005109.
A case report is given of a pair of monozygotic twin girls with neurofibromatosis caused by a new mutation. The symptomatology was dominated by a neurofibrosarcoma on the leg of one twin and by a large plexiform neurofibroma on the neck of the other twin. Otherwise, the disease showed similar, although not identical or mirror-image distribution of subcutaneous neurofibromas and café-au-lait spots. The twins had identical HLA and blood group antigens and the same chromosome aberration. These case reports indicate that nonhereditary factors may influence the manifestations of neurofibromatosis. A review of the literature on monozygotic twins with neurofibromatosis is given.
本文报告了一对由新突变引起神经纤维瘤病的单卵双生女孩病例。症状表现以其中一个双胞胎腿部的神经纤维肉瘤以及另一个双胞胎颈部的巨大丛状神经纤维瘤为主。此外，该疾病在皮下神经纤维瘤和咖啡牛奶斑的分布上表现出相似性，尽管并非完全相同或呈镜像分布。这对双胞胎具有相同的 HLA 和血型抗原以及相同的染色体畸变。这些病例报告表明非遗传因素可能影响神经纤维瘤病的表现。文中还对有关患有神经纤维瘤病的单卵双生双胞胎的文献进行了综述。
