Publications by authors named "Jacques Zeller"
Neurofibromatosis 1 (NF1) is a genetically transmitted disease occurring approximately once in 3000 live births and resulting from mutations of the NF1 gene that encodes a protein named neurofibromin, a negative regulator of the ras-dependent pathway. An excess of neoplasia especially tumours of neuroectodermal origin is classically observed. The occurrence of malignant melanoma in patients with NF1 has already been described in scattered clinical reports but little is known as to the characteristics of melanoma arising in NF1 patients.
View Article and Find Full Text PDFNeurofibromas and schwannomas express S100 protein, while axon filaments are not commonly found in schwannomas. Histopathological distinction between neurofibromas and schwannomas is usually easy, except for some variants. To assess the reliability of immunohistochemistry results for the differential diagnosis of the latter, 46 neural tumors of the skin were studied: 31 schwannomas [12 schwannomatosis, 7 neurofibromatosis type 2 (NF2)-associated, 12 solitary] and 15 plexiform neurofibromas associated with neurofibromatosis type 1.
View Article and Find Full Text PDFBackground: The morbidity and mortality caused by neurofibromatosis 1 are a result of complications that may involve any of the body systems. Two models of management have been proposed for the detection of various complications in specialized neurofibromatosis clinics: investigation protocols (including extensive imaging and analysis of 24-hour urinary catecholamine levels); or clinical follow-up without imaging.
Objective: Our purpose was to validate the strategy of clinical follow-up (without routine imaging and 24-hour urinary catecholamine levels).
Objective: To identify the main clinical features associated with mortality in patients with neurofibromatosis 1.
Design: Cohort study.
Setting: Referral center for neurofibromatosis.