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Updated: Nov 12, 2025

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1
Tine Lorentzen1, Hanne Madsen2,3, Marie Josée Zareh Lausten-Thomsen4
1Clinical Institute, University of Southern Denmark, Odense, Denmark tilor16@student.sdu.dk.
Abstract:
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.
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