Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I

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.