Lung parenchima changes in neurofibromatosis type 1.

Area of Science:

• Pulmonology
• Genetics
• Oncology

Background:

• Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is a frequent single-gene disorder linked to chromosome 17q.
• NF1 commonly presents with cutaneous, musculoskeletal, and neurological issues, often including tumors of the peripheral nervous system.
• Thoracic manifestations of NF1 are infrequently documented in medical literature.

Observation:

• A 65-year-old female with NF1 presented with severe shortness of breath and cyanosis.
• Skin changes consistent with NF1 were noted and confirmed by medical history.
• Initial treatment involved noninvasive mechanical ventilation, leading to patient improvement.

Findings:

• Diagnostic imaging, including X-rays and CT scans, revealed parenchymal abnormalities in the thorax.
• This case report details an association between NF1 and previously undocumented lung parenchymal abnormalities.
• The findings were established during diagnostic procedures in the Intensive Care Unit at the Clinic of Pulmonology.

Implications:

• This case underscores the importance of considering thoracic manifestations in patients diagnosed with NF1.
• Further investigation into the relationship between NF1 and lung parenchymal abnormalities is warranted.
• Enhanced diagnostic protocols may be necessary for early detection of pulmonary complications in NF1 patients.