Erschienen in:
01.02.2008 | Case Report
Coexistence of Mayer-Rokitansky-Kuster-Hauser Syndrome and Neurofibromatosis Type I
verfasst von:
Dr Savaş Yayli, Sevgi Bahadir, Gülseren Çimşit, Hasan Bozkaya, Halil İbrahim İmamoğlu, Sibel Kul
Erschienen in:
American Journal of Clinical Dermatology
|
Ausgabe 1/2008
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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.