Neurofibromatosis type 1 with combined mutation.

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.