Yayli Savaş, Bahadir Sevgi, Cimşit Gülseren, Bozkaya Hasan, Imamoğlu Halil Ibrahim, Kul Sibel
Department of Dermatology, Karadeniz Technical University, Medicine Faculty, Trabzon, Turkey.
Am J Clin Dermatol. 2008;9(1):57-60. doi: 10.2165/00128071-200809010-00007.
Neurofibromatosis type 1 (NF-1) is the most frequently seen form of neurofibromatosis. The characteristic features of this disorder are café au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rarely seen disease characterized by complete vaginal agenesis and uterine aplasia/hypoplasia. We report a case of an 18-year-old female patient who presented with complaints of brown marks, freckling, and primary amenorrhea. NF-1 and MRKH syndrome were diagnosed by physical examination and radiologic imaging. To our knowledge, this is the first report of coexistence of these rare genetic diseases in the literature.
1型神经纤维瘤病（NF-1）是最常见的神经纤维瘤病类型。这种疾病的特征性表现为咖啡斑、神经纤维瘤、腋窝和腹股沟雀斑、Lisch结节、诸如蝶骨发育异常等骨病变以及视神经胶质瘤。 Mayer-Rokitansky-Kuster-Hauser（MRKH）综合征是一种罕见疾病，其特征为完全性阴道发育不全和子宫发育不全/发育不良。我们报告一例18岁女性患者，她因褐色斑、雀斑和原发性闭经前来就诊。通过体格检查和影像学检查诊断为NF-1和MRKH综合征。据我们所知，这是文献中首次报道这两种罕见遗传病共存的病例。
