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Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common genetic diseases, affecting 1/4,000 individuals. It is transmitted by autosomal dominant inheritance and the gene NF1, which is responsible for the disease, is located on the long arm of chromosome 17. NF1 is characterized by varied expressions of the disease, even within the same family.
We present the case of a 22-year-old patient with NF1 admitted in the Department of Neurosurgery for a two months history of diffuse intercostal nevralgias that did not respond to treatment and discuss the histopathological and immunohistochemical features of her cutaneous and spinal neurofibromas.
Our case adds new data to the knowledge of the diverse biological behaviour of NF1, highlighting the fact that this condition is a complex disease even in the same individual. We report here a highly variability among neurofibromas in the same patient from a histopathological point of view. Our data are also important as they demonstrate the fact that the management of a patient with NF1, due to the various and complex manifestations of the disease, requires a multidisciplinary approach, including neurologist, neurosurgeon, ophthalmologist, plastic surgeon, derma-tologist, radiologist and pathologist.