Study of the Demographic and Clinical Profile in a Neurocutaneous Rare Disease: A Cross-Sectional Study

Abstract

Background : Neurofibromatosis is one of the most common dominantly inherited genetic disorders. The aim of this study was Study of the demographic and clinical profile in neurofibromatosis patient. Methods :This study is cross-sectional conducted in 2020 on the population of patients with neurofibromatosis. Patients who are members of 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 ± 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 = <0.001) and gender (p = 0.042) was significant and the relationship between visibility and age (p = <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 Café au lait spot. In addition, visibility and severity of the disease were mild and moderate, respectively.

The role of miRNAs and lncRNAs in neurofibromatosis type 1

“…Clinically speaking, NF1 patients present with freckles mostly located at armpits and groins (also known as Crowe sign) and CALMs across the body except for the scalp, eyebrows, palms, and soles. 9,10 CALMs are the initial diagnostic criteria spotted in 99% of patients before age two, while freckles are less frequent. 11,12 Moreover, bone defects are present in up to 30% of NF1 patients.…”