PT  - JOURNAL ARTICLE
AU  - Lorentzen, Tine
AU  - Madsen, Hanne
AU  - Lausten-Thomsen, Marie Josée Zareh
AU  - Bygum, Anette
TI  - Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
AID  - 10.1136/bcr-2020-238694
DP  - 2021 Mar 01
TA  - BMJ Case Reports
PG  - e238694
VI  - 14
IP  - 3
4099  - http://casereports.bmj.com/content/14/3/e238694.short
4100  - http://casereports.bmj.com/content/14/3/e238694.full
SO  - BMJ Case Reports2021 Mar 01; 14
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.