Neurofibromatosis Type‐1 Lung Disease Complicated by Pleuroparenchymal Fibroelastosis

Abstract

ABSTRACT Neurofibromatosis type‐1 is a rare autosomal dominant disease, due to the loss of the NF1 tumour suppressor gene. Here we present a case of a 28‐year‐old man with neurofibromatosis type‐1 lung disease and pleuroparenchymal fibroelastosis leading to recurrent pneumothoraxes requiring intervention.

Keywords

• neurofibromatosis type‐1
• pleuroparenchymal fibroelastosis
• pneumothorax
• pulmonary circulation and pulmonary hypertension
• ventilation