Le glaucome congénital constitue une complication ophtalmologique dans la neurofibromatose type 1 ou maladie de von Recklinghausen. Nous rapportons un cas de glaucome congénitale dans le cadre d'une neurofibromatose de type 1, à travers lequel on va discuter les mécanismes étiopathogénique, les difficultés thérapeutiques et les facteurs pronostiques du glaucome congénital au cours la maladie de...

Neurofibromatosis, as identified by yon Recklinghausen, is an autosomal dominant, neurocutaneous syndrome, characterized by multiple neurofibromas, cafe-au-lait spots, and iris Lisch nodules.1, 2 This disorder has also been referred to as the "Elephant Man" disease, and was the subject of a play and movie depicting the life of Joseph Merrick, who suffered severely from neurofibromatosis. 2 Othe...

The neurofibroma is a tumour of neural origin. This kind of neoplasm, though, is generally skin located. Rare cases in deep organs or in the peritoneal cavity are also reported in the literature. There are two types of neurofibromas, localized and diffuse; the latter is associated with von Recklinghausen disease and always occurs together with skin neurofibromas. Here we report the case of a 47...

von Recklinghausen disease (vRD), more widely known as neurofibromatosis type 1, belongs to a group of genetic disorders and it is considered to be the most common genodermatosis. The disease has an autosomal dominant pattern of inheritance that involves mutations within the NF1 gene located on chromosome 17 in locus q11.2. The product of the NF1 gene is neurofibromin and the protein is well kn...

Linkage analysis of 28 genetic markers was undertaken in 108 subjects from 11 families with well-documented, classic, peripheral neurofibromatosis. Fifty-four persons were affected in one four-generation family, seven three-generation families, and three two-generation families. Lod scores were calculated using the standard LIPED programme for 49 combinations of theta male and theta female from...

Type 1 neurofibromatosis (NF1), or von 
Recklinghausen disease, is a genetic disorder that is well known for its clinical features. 
Effective treatment modalities for NF1 have not yet been established. The advent of new treatment options for NF1 such as topical vitamin D3 analogues, lovastatin, rapamycin (or sirolimus), and imatinib mesylate has added new dimensions that require further invest...