RT Journal Article
SR Electronic
T1 Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e238694
DO 10.1136/bcr-2020-238694
VO 14
IS 3
A1 Lorentzen, Tine
A1 Madsen, Hanne
A1 Lausten-Thomsen, Marie Josée Zareh
A1 Bygum, Anette
YR 2021
UL http://casereports.bmj.com/content/14/3/e238694.abstract
AB Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.