Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence

Abstract

Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen’s disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Additionally, progressive fibrotic changes, such as ground-glass areas, consolidations, and paving stone patterns, may manifest in the basal parts of the lungs. In this case report, a case of NF1 diagnosed in adulthood and accompanying pneumoconiosis was discussed as a coincidence.

Keywords:

• Neurofibromatosis
• occupational medicine
• occupational respiratory diseases
• pneumoconiosis

Disclosure statement

No potential conflict of interest was reported by the authors.

Ethical approval

All ethical principles were considered in this article. As this article represents a retrospective and anonymized case study, it falls outside the scope of institutional review board oversight. Written informed consent was obtained from the patient.

Additional information

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.