A Case of the Variant Type Neurofibromatosis / 대한이비인후과학회지

ABSTRACT

A case of neurofibromatosis in a 51 year old woman, with no other evidences of genetic defect, is described. Neurofibromatosis affects primarily cell growth of neural tissues and can cause tumors to grow on nerves. In the past, neurofibromatosis has been divided into 2 groups, Type I and Type II. The two groups have been shown to be distinct at clinical and molecular levels. Cafe-au-lait spots, neurofibroma, freckling in axilla, lisch nodule, family history and defect of chromosome 17q are the distinctive features of neurofibromatosis Type I, whereas bilateral vestibular schwannoma, family history and defect of chromosome 22q characterize the neurofibromatosis Type II. We experienced a case of neurofibromatosis having multiple neurofibromas in both neck, left thoracic inlet, and spinal cord without abnormal chromosomal findings. We present this case with a review of the literature.