Background : Neurofibromatosis type 1(NF-1) is a multisystemic disorder of genetic origin, affecting one in every 3000 to 4000 people. It is clinically important in the aspect of dermatology, pediatrics, orthopedic surgery, neurology,
neurosurgery
and
ophthalmology.
Objective : The purpose of this study was to elucidate the clinical characteristics of NF-1 in Korean people.
Methods : We carried out a retrospective study on 112 patients which were compatible to the diagnostic criteria of Riccardi and Neurofibromatosis Conference Statement. The results were compared with other western studies.
Results : The age of onset, sex ration, family history of neurofibromatosis, and clinical features of caf*-au-lait spot, neurofibroma, and axillary freckinings did not differed from western countries. However, some characteristics of NF-1 (e.g.
Lisch
nodule) were not assessed in the most of the cases and incomplete evaluations of the systemic diseases were found.
Conclusion : In this study the clinial features of NF-1 did not differ from western countries in many aspects. A more intensinve evaluation of patient's status is needed to manage NF-1 patient's appropriately. (Kor J Dermatol 1995;33(6) :
1091~1098)
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