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Related Experiment Video

Updated: May 18, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
03:53

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Neurofibromatosis-associated diffuse lung disease: case report.

Michael Y Shino1, Shehrzad Rabbani, John A Belperio

  • 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1690, USA.

Seminars in Respiratory and Critical Care Medicine
|September 25, 2012
PubMed
Summary

Neurofibromatosis (NF) can be associated with interstitial lung disease. This case highlights typical HRCT findings, supporting NF-associated diffuse lung disease (NF-DLD) as a distinct manifestation.

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Area of Science:

  • Pulmonology
  • Radiology
  • Genetics

Background:

  • Neurofibromatosis (NF) is a genetic disorder with known associations with various organ systems.
  • Interstitial lung disease (ILD) has been infrequently reported in patients with NF.
  • High-resolution computed tomography (HRCT) findings in NF-associated ILD are not extensively documented.

Observation:

  • A 34-year-old male smoker with NF presented with diffuse lung disease.
  • HRCT revealed findings including bullous emphysema, thin-walled cysts, and diffuse ground-glass opacities.
  • These findings were predominantly in the upper lobes.

Findings:

  • The patient's HRCT findings are consistent with previously described patterns of ILD in NF.
  • Upper lobe predominant cystic and bullous changes were noted.

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Last Updated: May 18, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

  • Ground-glass opacification and basilar reticular abnormalities were also present.

    • Implications:

    • This case contributes to the growing evidence for NF-associated diffuse lung disease (NF-DLD) as a distinct clinical entity.
    • Recognition of these HRCT patterns may aid in the diagnosis of NF-DLD.
    • Further research is warranted to understand the pathogenesis and clinical significance of NF-DLD.