Clinical Institute, University of Southern Denmark, Odense, Denmark
Odense Research Center for Anaphylaxis, Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
BMJ Case Rep. 2021 Mar 18;14(3):e238694. doi: 10.1136/bcr-2020-238694.
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 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.
神经纤维瘤病 1 型（NF1）是一种影响皮肤、神经系统、眼睛和骨骼的遗传疾病。许多医生并不了解肺部受累情况。然而，患者可能会受到肺大疱和囊肿的影响，这代表着继发性自发性气胸（SSP）的风险增加。我们介绍了一位 56 岁的患者，他携带基因的致病性变异，患有肺部表现和复发性 SSP 的 NF1。识别具有发生 SSP 风险增加的患者非常重要，因为预防性手术似乎可以降低新发病例的风险。气胸可能是 NF1 的临床表现，但尚未得到广泛认可。
