نتایج جستجو برای: von recklinghausen
تعداد نتایج: 96693 فیلتر نتایج به سال:
Les tumeurs conjonctives gastro-intestinales (GISTs) associées à la maladie de Von Recklinghausen (VRH) doivent être analysées en faveur du nouveau concept des GISTs qui se base sur les apports modernes de l'immunohistochimie. Nous rapportons un cas d'un malade présentant l'association d'une tumeur stromale du grêle à la maladie de VRH. Il s'agit d'un patient de 33 ans, qui présente une semaine...
To cite: Rocha SM, Ferreira MB, Ribeiro R, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-200033 DESCRIPTION A 35-year-old black woman with Von Recklinghausen disease (or neurofibromatosis type 1) presented multiple café-au-lait spots, axillary freckling and multiple cutaneous neurofibromas, which were more expressive in the abdomen and trunk (figure...
Type I Neurofibromatosis (NF1) is an autosomal-dominant inheritable disorder, with an incidence of 1:3,000, and a prevalence of 1:4,000 to 5,000. Pathogenesis is based on mutations of the NF1 gene, a tumor suppressor gene encoding a cytoplasmic protein named neurofibromin that controls cellular proliferation. Patients affected by NF1 typically present with cutaneous neurofibromas, cafè au lait ...
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