Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1

BACKGROUND: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF‐1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low‐ and middle‐income countries. METHODS: We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil. RESULTS: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. CONCLUSIONS: Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low‐ and middle‐income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher‐income countries and international registries.