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Colegio de Medicina Interna de México.

2010, Number 4

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Med Int Mex 2010; 26 (4)

Malignant transformation of a mediastinal plexiform neurofibroma in a patient with von Recklinghausen disease. Apropos of a case

Moreno UJ

Language: Spanish
References: 14
Page: 401-405
PDF size: 363.23 Kb.


ABSTRACT

Neurofibromatosis 1, known as von Recklinghausen’s disease, is a neurocutaneous disorder inherited in an autosomal dominant pattern. It is characterized by a high risk of tumor formation due to an alteration in a citoplasmic protein known as neurofibromin. It has a prevalence of 1 in 2500 to 1 in 3000. The characteristic lesions in NF1 are café-au-lait spots that associates to cutaneous neurofibromas. Café-au-lait spots, axilary freckles, Lisch nodules and neurofibromas are the usual order of presentation.


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