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.