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 female, who was referred to the pulmunologist with a suspicion of a lung tumor. The patient was admitted to the Pulmonology Department to investigate further the subpleural mass localized in the 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, PET and ophthalmological examination, led to diagnosis of neurofibromatosis type 1 with pulmonary involvement.