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Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach.
Oral Surg Oral Med Oral Pathol Oral Radiol
September 2019
Department of Stomatology, School of Dentistry, Federal University of Amazonas, Manaus, AM, Brazil.
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disorder caused by mutations of chromosome 17. The NF1 clinical diagnosis is based on pre-established criteria, including the presence of cutaneous neurofibromas, café au lait spots, and iris (Lisch) nodules. Early detection and a multidisciplinary approach are essential for the prevention of complications, including problems of function, aesthetics, and self-esteem, as well as the occurrence of malignant transformation.
View Article and Find Full Text PDFCarpal tunnel syndrome due to a plexiform neurofibroma of the median nerve in a neurofibromatosis type 1 patient: clinical approach.
BMJ Case Rep
July 2013
Department of Orthopedics, Centro Hospitalar do Porto-Hospital Santo António, Porto, Portugal.
The authors report the case of a 56-year-old male patient with neurofibromatosis type 1 (NF1) diagnosed during adolescence and with an insidious clinical evolution, characterised by an exuberant cutaneous involvement, referred to the orthopaedics outpatient clinic presenting with carpal tunnel syndrome secondary to a plexiform neurofibroma of the median nerve. A comprehensive clinical approach is discussed, considering the natural history of the disease and its potential complications, as well as the lack of consensus regarding standard therapeutic options for the compressive peripheral neuropathies in the NF1 disease.
View Article and Find Full Text PDFMixed cranial nerve tumors in neurofibromatosis type 2.
Clin Neuropathol
May 1996
Department of Morbid Anatomy, London Hospital Medical College, UK.
Five cerebellopontine angle tumors from four patients with neurofibromatosis (NF) are described. Three were surgical resection specimens from patients with NF2 and two were removed at autopsy from a fourth patient who appears to have had a variant of NF2. On microscopy the three biopsy specimens appeared to be histologically mixed tumors: although they were predominantly typical benign schwannomas, the tumors also contained islands of meningioma, the two tumor types being closely intermingled.
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