Document Detail

Neurofibromatosis--review of the literature and case report.
MedLine Citation:
PMID:  17010267     Owner:  NLM     Status:  MEDLINE    
Neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors 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 in the individual's genes. We report on seven cases of type 1 neurofibromatosis (NF1) diagnosed from 2001 to 2006 at our Department. There were four female and three male patients, mean age 46.1 and 49 years, respectively. All patients showed neurofibromas accompanied by fibromas, café au lait spots, cases showed five axillary freckling (lentigines) and one case showed five plexiform neurofibromas and pruritus belonging to NF1 category. All patients had affected first degree relatives. Systemic findings were rare and included optic glioma in one case and Lisch hamartoma nodules in three cases. In all cases, the diagnosis was established according to the National Institutes of Health criteria, including at least two of the diagnostic criteria for NF1 diagnosis. None of our cases had malignancies or gastrointestinal tract involvement.
Zrinjka Pastar; Jasna Lipozencić; Dragomir Budimcić; Mirna Tomljanović-Veselski
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Acta dermatovenerologica Croatica : ADC     Volume:  14     ISSN:  1330-027X     ISO Abbreviation:  Acta Dermatovenerol Croat     Publication Date:  2006  
Date Detail:
Created Date:  2006-10-02     Completed Date:  2007-01-19     Revised Date:  2011-09-13    
Medline Journal Info:
Nlm Unique ID:  9433781     Medline TA:  Acta Dermatovenerol Croat     Country:  Croatia    
Other Details:
Languages:  eng     Pagination:  167-71     Citation Subset:  IM    
Health Department, Ministry of Defense, Zagreb University Hospital Center, Zagreb, Croatia.
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MeSH Terms
Middle Aged
Neurofibromatoses / complications*,  diagnosis*,  therapy

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