Journal of IMAB (Oct 2008)

A CASE OF NEUROFIBROMATOSIS TYPE 1

  • Valentina Dimitrova,
  • Ivelina Yordanova,
  • Verka Pavlova,
  • Valentin Valtchev,
  • Dimitar Gospodinov,
  • Boryana Parashkevova,
  • Chavdar Balabanov

DOI
https://doi.org/10.5272/jimab.14-1-2010.63
Journal volume & issue
Vol. 14, no. 1
pp. 63 – 67

Abstract

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Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen’s disease, is the most common type of the disease accounting 90% of the cases. We present a case of 52-year-old men with NF-1. The disease started in childhood with the appearance of multiple hyperpigmented skin macules. At the age of 46 a lot of cutaneous tumors appeared and started growing bigger all over the body surface. Because of a vision problem due to an upper left eyelid neurofibroma, the patient came for a clinical examination at the age of 52 years.

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