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Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

Meena Upadhyaya

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Neurofibromatosis type 1 is a common autosomaldominantly inherited tumour predisposition syndrome affecting 1/3000-4000 individuals worldwide . This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. NF1 manifests a variety of characteristic clinical features, including hyperpigmentary abnormalities of the skin , iris hamartomas and the growth of benign peripheral nerve sheath tumours in the skin. These neurofibromas display several different subtypes and are associated with a variety of clinical complications. Cutaneous neurofibromas are discrete small dermal tumours observed in almost all adult NF1 patients. The usually much larger plexiform neurofibromas , a more diffuse tumour type, are present in 30-50% of NF1 patients, and, importantly, some 10-15% of these benign tumours subsequently become transformed into aggressive malignant peripheral nerve sheath tumours , the main cause of morbidity in NF1.

Pages: 120

Format: ebook

Publisher: Morgan & Claypool

Release: April 01, 2014

ISBN: 1615046453

ISBN 13: 9781615046454

Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

Meena Upadhyaya

0/5 ( ratings)

Neurofibromatosis type 1 is a common autosomaldominantly inherited tumour predisposition syndrome affecting 1/3000-4000 individuals worldwide . This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. NF1 manifests a variety of characteristic clinical features, including hyperpigmentary abnormalities of the skin , iris hamartomas and the growth of benign peripheral nerve sheath tumours in the skin. These neurofibromas display several different subtypes and are associated with a variety of clinical complications. Cutaneous neurofibromas are discrete small dermal tumours observed in almost all adult NF1 patients. The usually much larger plexiform neurofibromas , a more diffuse tumour type, are present in 30-50% of NF1 patients, and, importantly, some 10-15% of these benign tumours subsequently become transformed into aggressive malignant peripheral nerve sheath tumours , the main cause of morbidity in NF1.

Pages: 120

Format: ebook

Publisher: Morgan & Claypool

Release: April 01, 2014

ISBN: 1615046453

ISBN 13: 9781615046454

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