Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report.
- Author:
Soo Jin NA
1
;
Hye Yeon LEE
;
Hyun Seon KIM
;
Hyeon Jin SEONG
;
Bu Seok JEON
;
Hui Kyung JEON
Author Information
1. Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. jhkmht@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Hypertension;
Pulmonary;
Neurofibromatosis 1
- MeSH:
Humans;
Hypertension;
Hypertension, Pulmonary*;
Korea;
Neurofibroma;
Neurofibromatoses*;
Neurofibromatosis 1*;
Neurofibromin 1;
Prognosis;
Risk Factors
- From:Korean Journal of Medicine
2013;85(5):521-525
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.
