Neurofibromatosis type 1 with combined mutation.
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DOI:
https://doi.org/10.26326/2281-9649.34.4.2685How to Cite
Mun A.V., Kuddusova K.K.q. 2024. Neurofibromatosis type 1 with combined mutation. Eur. J. Pediat. Dermatol. 34 (4):209-12. 10.26326/2281-9649.34.4.2685.
pp. 209-12
Abstract
Neurofibromatosis is a frequent autosomal dominant inherited skin disorder caused by a pathogenic variant of the NF1 gene. An exceptional case is presented in an 8-year-old girl who also had a probably pathogenic mutation of the IGF1R gene. The differential diagnosis of the disease and the role of genetic testing in the diagnostic process were also discussed.
Keywords
NF1, genetics, child