Articles | Open Access | https://doi.org/10.37547/ijmscr/Volume05Issue03-07

"The secrets of rare diseases: what lies behind mysterious diagnoses" type 2 neurofibromatosis (Recklinghausen's disease)

Mukhitdinova F.U. , Zarmed University, Uzbekistan, Samarkand, 140105, Uzbekistan
Shukrullozoda R.Sh. , Zarmed University, Uzbekistan, Samarkand, 140105, Uzbekistan

Abstract

Neurofibromatoses (NF) are a group of hereditary diseases characterized by the development of multiple benign, and more rarely malignant, tumors in the central and peripheral nervous systems. Currently, this group includes three main conditions: type I neurofibromatosis (NF I), type II neurofibromatosis (NF II), and schwannomatosis (SWMT). Notably, neurofibromatosis, whose symptoms occur equally in both men and women, most commonly manifests in childhood, particularly during puberty.

Keywords

Type II neurofibromatosis, schwannomas, tumor process

References

Ardern-Holmes S., Fisher G., North K. Neurofibromatosis type 2: presentation, major complications, and management, with a focus on the pediatric age group. J Chil Neurol 2017;32(1):9–22.

Coy S., Rashid R., Stemmer Rachamimov A. et al. An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol 2020;139(4):643–65.

Cichowski K., Jacks T. NF1 tumor suppressor gene function: narrowing the GAP. Cell. 2001; 104: 593–604.

Clementi M., Milani S., Mammi I., et al. Neurofibromatosis type 1 growth charts. Am. J Med. Genet. 1999; 87: 317–23.

Evans D.G., Bowers N.L., Tobi S. et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psych 2018;89(11):1215–9. DOI: 10.1136/jnnp-2018-318538.

Evans D.G., Hartley C.L., Smith P.T. et al. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing. Genet Med 2020;22(1):53–9.

Evans G. R. Multiple meningiomas: differential involvement of the NF2 gene in children and adults // J. Med. Genet. – 2005. – V. 4. – P. 42-48.

Gutmann D.H. Recent insights into neurofibromatosis type 1: clear genetic progress. Arch. Neurol. 1998; 55: 778–80.

Farschtschi S.C., Mainka T., Glatzel M. et al. C-fiber loss as a possible cause of neuropathic pain in schwannomatosis. Int J Med Sci 2020;21(10):3569.

Gripp K.W., Baker L., Kandula V. et al. Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager. Clin Genet 2017;92(5):540–3. DOI: 10.1111/cge.13013.

Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis. Int J Med Sci 2021;22(11):5850.

Zhu Y., Parada L.F. Neurofibromin, a tumor suppressor in the nervous system. Exp. Cell Res. 2001; 264: 19–28.

Lothe R.A., Slettan A., Saeter G., et al. Alterations at chromosome 17 loci in peripheral nerve sheath tumors. J Neuropathol. Exp. Neurol. 1995; 54: 65–73.

Shen M.H., Harper P.S., Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med. Genet. 1996; 33: 2–17.

Гузев В. И. Руководство по детской неврологии. — М.: МИА, 2009. — 616 с.

Коновалов А. Н. Хирургия опухолей основания черепа— М.: НИИ нейрохирургии, 2004. — С. 169-170.

Козлова С. И. Наследственные синдромы и медико–генетическое консультирование – М.: Медицина, 1987. – 320 с.

Котов С. В. Основы клинической неврологии. – М.: ГЭОТАР-Мед, 2014. – 481 с.

Кулешов А. А. Хирургическое лечение тяжелой вторичной сколиотической деформации позвоночника у больной нейрофиброматозом (описание случая) – 2006. – №2. – С. 51-53.

Ляпоткин И. А. Клиническая дермато-онкология: атлас. – М.: БИНОМ, 2011. – 195 с. – Л.: Медицина, 1981. – С. 117-118.

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Mukhitdinova F.U., & Shukrullozoda R.Sh. (2025). "The secrets of rare diseases: what lies behind mysterious diagnoses" type 2 neurofibromatosis (Recklinghausen’s disease). International Journal of Medical Sciences And Clinical Research, 5(03), 36–39. https://doi.org/10.37547/ijmscr/Volume05Issue03-07