[Neurofibromatosis type 1 in an adult diagnosed by a pulmonologist]

Neurofibromatosis type 1 (NF1), referred to as von Recklinghausen's disease, is a genetic disorder triggered by mutation of the NF1 gene, resulting in a lack of neurofibromin, which leads to abnormalities found in the peripheral nervous system and central nervous system, as well as in other organs. The disease is diagnosed early, usually in childhood by pediatricians. However, in some cases, the disease is clinically silent and remains undiagnosed or is recognized in the late adulthood. We report a case study of a 32-year-old woman who was referred to the pulmonologist with a suspicion of a lung tumor but who was eventually diagnosed with neurofibromatosis type 1. She was admitted to the Pulmonology Department to investigate shadowing in her left lung found by chance in a chest X-ray. Physical examination revealed café au lait spots on her skin, several subcutaneous nodules which were confirmed by a histopathology to be consistent with neurofibroma. Further diagnostic testing, such as chest CT and PET along with ophthalmological examination, led to diagnosis of neurofibromatosis type 1.