Objective: Neurofibromatosis is one of the most common dominantly inherited genetic disorders. This study aimed to study the demographic and clinical profile of neurofibromatosis patients.
Methods: This study is cross-sectional conducted in 2020 on the population of patients with neurofibromatosis. Patients who are members of the Neurofibromatosis Association answered the online demographic and clinical information questionnaire.
Results: 446 patients with neurofibromatosis participated in this study with a mean age of 33.39 plus or minus 12.87 years. 297 patients (66.6%) were women and 378 (84.8%) patients had type 1 neurofibromatosis. The disease visibility was reported to be moderate in 254 patients (54.9%) and the severity of the disease was mild in 238 (53.4%) patients. The type of neurofibromatosis was not significantly related to gender, age groups, parental education, and ethnicity. The relationship between severity and age (p is equal to less than 0.001) and gender (p is equal to 0.042) was significant and the relationship between visibility and age (p is equal to less than 0.001) was significant but despite the fact that the disease was more visible in men than women, it was not significantly related to gender.
Conclusions: The study results showed that the most common complication in the study population was Cafe au lait spot. In addition, visibility and severity of the disease were mild and moderate, respectively. Keyword: Neurofibromatosis, Demographic information, Clinical Information.