Association between neurofibromatosis type 1 (NF-1) and multiple sclerosis (MS) has been very rarely described. We report the case of a 40-year-old woman presenting familial NF-1 who had caf茅 au lait spots and cutaneous neurofibromatosis since childhood. Five years earlier, she experienced a...
We report here a case of NF1 in a 31-year-old woman presenting simultaneously with an abdominal neurofibrosarcoma and a pheochromocytoma. The prevalence of secondary neoplasia and endocrine tumors in NF1 is also discussed.doi:10.1080/17843286.1991.11718148Grez, T. De...
Type I neurofibromatosis (NF) is the most common autosomal dominant disease. It concerns one in 3000 births, the penetrance is close to 100% and 50% of new cases are de novo mutations (17q11.2 chromosome 17 location). Cranio-maxillofacial region is concerned in 10% of the cases, in ...
Iconography : Atteinte pulmonaire sévère au cours de la neurofibromatose de type 1Type 1 neurofibromatosis (NF1) is a hereditary disease inherited as an autosomal dominant. Respiratory involvement is rare. We report the case of a woman suffering from NF1 with mutation of the corresponding gene ...
Maladie de Von RecklinghausenTaches de YasunariNeurofibromatosis 1Lisch nodulesNeurofibromatosis type 1Optic pathway gliomasOptic pathway glioma (OPG) is a classic complication of neurofibromatosis type 1 (NF1) and can impair visual function in children with this condition. The objective of this study ...
Feuillet L, Boudinet H, Casseron W, Uzenot D, Pelletier J, Ali Cherif A. Association neurofibromatose de type I et sclerose en plaques. Rev Neurol (Paris) 2004; 160: 447-51.Feuillet L, Boudinet H, Casseron W, Uzenot D, Pelletier J, Ali CA. Multiple ...
doi:10.1590/S0104-42302009000400012Juliana Ferreira de SouzaLuana Lopes de ToledoMaria Clara Magni FerreiraLuiz Oswaldo Carneiro RodriguesNilton Alves de RezendeRevista da Associao Médica Brasileira
Dereure o. Role of non-coding RNAANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1[J].Ann Dermatol Vénéréol 2012,139(05).O. Dereure.Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1. ANNALES DE DERMATOLOGIE ET DE ...
Manifestacoes orbito-palpebrais da neurofibromatose tipo1: revisao de 16 casos. Arq Bras Oftalmol. 2004;67(3):429-32.Curi CL, Herzog G, Sebastia R. Manifestacoes orbito- palpebrais da neurofibromatose tipo 1: revisao de 16 casos. Arq Bras Oftalmol. 2004; 67(3): 429-32....
Neurofibromatosis type 1Plexiform neurofibromas of the orbit, sometimes extending to the temporal region and the face, are considered to be a rare but devastating and disfiguring complication of neurofibromatosis type 1. The first symptoms appear in infancy and the involvement of the orbit and the ...