von Recklinghausen neurofibromatosis (VRNF) is one of the most common inherited disorders affecting the human nervous system. VRNF is transmitted as an autosomal dominant defect with high penetrance but variable expressivity. The disorder is characterized clinically by hyperpigmented patches of skin (café au lait macules, axillary freckles) and by multiple tumors of peripheral nerve, spinal ner...

Neurofibromatosis type 1 (NF1) (von Recklinghausen disease) is an autosomal dominantly inherited neurocutaneous disorder which affects many systems like ocular, cutaneous and nervous systems and seen in 1:3500 births. Cardinal diagnostic criteria of NF1 were established in 1987 by National Institutes of Health Consensus.Early diagnosis and the findings of NF1 are unclear in childhood, but with ...

Introduction Vasculopathy, such as an aneurysm, stenosis, rupture, or arteriovenous fistula, in patients with neurofibromatosis type I (NF-1; von Recklinghausen disease) is well recognised. However, there has been no report regarding treatment for a ruptured lumbar artery aneurysm associated with NF-1. We present the first report of successful endovascular treatment by coil embolisation for a r...

Von Recklinghausen neurofibromatosis (NF1) is one of the most common inherited human disorders. The genetic locus that harbors the mutation(s) responsible for NF1 is near the centromere of chromosome 17, within band q11.2. Translocation breakpoints that have been found in this region in two patients with NF1 provide physical landmarks and suggest an approach to identifying the NF1 gene. As part...

Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the...

Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and neurofibromatosis type 2 (NF2). NF1 is by far the most common presentation and is caused by an autosomal dominant mutation in the NF1 gene mapped to chromoso...

✔ Spinal neurofibromas are the most prevalent group of spinal tumors. They occur sporadically or in association with Neurofibromatosis type-1 (NF1, von Recklinghausen disease). A neurofibroma’s developing a “dumbbell tumor” is a situation which is quite often seen. Surgical intervention is indicated when myelopathy and motor deficits develop in the case of paraspinal neurofibromas. The goal of ...