https://orcid.org/0000-0001-9239-0103
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.Citation1
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.Citation2
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.Citation3 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.Citation4 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.Citation5
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.
Disclosure
The authors report no conflicts of interest in this communication.
Acknowledgments
The authors would like to acknowledge all the researchers and Prof. Dr. Sunarno in the Center for Biomedical Research BRIN for their continuous support. The authors would also like to convey gratitude to the research team of Almuqbil et al for their valuable research report.
References
- Almuqbil M, Alshaikh FY, Altwaijri W, et al. Epidemiology and outcomes of neurofibromatosis type I (NF-I): multicenter tertiary experience. J Multidiscip Healthc. 2024;17:1303–1314. doi:10.2147/JMDH.S454921
- Wolfertz N, Bohm L, Keitel V, et al. Epidemiology, management, and outcome of infection, sepsis and septic shock in a German emergency department (EpiSEP study). Front Med. 2022;9:997992. doi:10.3389/fmed.2022.997992
- Adil A, Koritala T, Munakomi S, et al. Neurofibromatosis type 1. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health; 2024.
- Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A(2):327–332. doi:10.1002/ajmg.a.33139
- DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608–614. doi:10.1542/peds.105.3.608