Abstract
Neurofibromatosis type 1 (NF-1) is the most frequently seen form of neurofibromatosis. The characteristic features of this disorder are caf´ au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, ebone 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.
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No sources of funding were used to assist in the preparation of this case report. The authors have no conflicts of interest that are relevant to the content of this case report.
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Yayli, S., Bahadir, S., Çimşit, G. et al. Coexistence of Mayer-Rokitansky-Kuster-Hauser Syndrome and Neurofibromatosis Type I. Am J Clin Dermatol 9, 57–60 (2008). https://doi.org/10.2165/00128071-200809010-00007
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DOI: https://doi.org/10.2165/00128071-200809010-00007