A Clinical Study on Neurofibromatosis type 1

Youn, Sang Woong; Park, Kyoung Chan; Kim, Kyu Han; Cho, Kwang Hyun; Chung, Jin Ho; Eun, Hee Chul; Youn, Jai Il

Abstract

BACKGROUND: Neurofibiomat,osis type 1(NF-1) is a multisystemic disorder of genetic ori gin, 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 purpore 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 ratio, family history of neurofibromatosis, and clinica features of cafe-au-lait spot, neurofibroma, and axillary freckinings did not differed from western countries. However, some characterist,ics of NF 1(e.g. Lisch nodule) were not as sessed in the most of the cases and incomplete evaluations of the systemic diseases wen found.
CONCLUSION
In this study t.he clinial features of NF-1 did not differ from western coun tries in many aspects. A more intensive evaluation of patient,s status is needed to manag; NF-1 patients appropritely.