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Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence
Defne Kalaycı1, Mehmet Maruf Aydın2, Levent Özdemir3
1Occupational Medicine Outpatient Clinic, Antalya City Hospital, Antalya, Turkey.
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.
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