Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a relatively common inherited neurogenetic disorder that predisposes individuals to various benign and malignant tumors, primarily in the nervous system. Diagnosis depends on clinical manifestations; however, the clinical presentation of NF1 is highly variable, and complications of NF1 may show great heterogeneity. In this manuscript, we report the case of a 45-year-old male patient who presented with frequent episodes of fever (up to 39°C) and productive cough initially non-responsive to standard-of-care medical treatment. The chest computerized tomography (CT) findings of bullous lung disease, along with skin abnormalities (multiple café-au-lait macules and a plexiform neurofibroma) and iris Lisch nodules, raised the suspicion of undiagnosed NF1. Diagnosis of NF1 was established based on clinical criteria. This case underscores the heterogeneity that may characterize NF1 and demonstrates the diverse and unpredictable nature of the disease. Lung disease may complicate NF1, even as an early yet severe clinical presentation in a previously undiagnosed individual.
Anyfanti et al. (Mon,) studied this question.