engleski

Neurofibromatosis – review of the Literature and Case Report.

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumours to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. We report seven cases of NF1 established from 2001 to 2006 in our Department. There were four females (mean age 46.1) and three male (mean age 49 year). All cases showing neurofibromas accompanied by fibromas, 5 plaxiform neurofibroma and pruritus, café-au-lait spots, 5 had axillary freckling (lentigines) belonging to NF1 category. All our cases had some affected first degree relatives. Systemic findings were rare: optic glioma was found in one case ; Lisch hamartoma nodules in three cases. The diagnosis was established in all cases according National Institutes of Health which included at least two of proposed diagnostic criteria for NF1 diagnosis. None of our cases had increased risk for cancerous tumors ; no gastrointestinal tract involvement.

neurofiroma; neurofibromatosis; Recklinghausen's disease; central neurofibromatosis

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