Response to “Epidemiology and Outcomes of Neurofibromatosis Type 1 (NF-1): Multicenter Tertiary Experience” [Letter]

Dear editor

We congratulate Almuqbil et al for successfully conducting their research study to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. Findings from this study form a holistic discussion about the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1). This study uses a combination of NF-1 cases identification to obtain an expeditious and accurate diagnosis especially important for therapeutic methodologies.¹

However, after reviewing this research carefully, we suggest adding a discussion regarding knowledge about the area sampled so the epidemiology can be mapped based on the sampling area.²

Neurofibromatosis type 1 (NF-1) or Von Recklinghausen disease is one of the inheritable neurocutaneous disorders that harbinger risk for bone abnormalities, vasculopathy, and cognitive impairment.³ Our suggestion is to add a research background regarding Neurofibromatosis type 1 (NF-1) in Saudi Arabia.

Data on the incidence of Neurofibromatosis type 1 (NF-1) in general is needed to find case updates.⁴ The data can also be compared with data of this study. Additional clinical features of Neurofibromatosis type 1 (NF-1) are complete but need to be reviewed regarding pediatric patients, especially young children who need attention.⁵

We sincerely thank Almuqbil et al for their concern and look forward to continued efforts in the epidemiology of Neurofibromatosis type 1 (NF-1) autosomal-dominant genetic disorder cases.