Pediatria pre prax 2/2009

Long term complex follow up of children with neurofibromatosis

Neurofibromatosis type 1 (NF1), or Recklinghausen’s disease is one of most common autosomal recessive disease in our population. This neurocutaeous disease is variable in its clinical manifestation in signs, complications and affected patients also within one family. In the childhood, the cutaeous form is the most common and it is manifesting as „café-au-lait” spots, freckling in axillaries and groin area. The most serious complication of this disease is the malignant transformation of neurofibromas and a spontaneous outbreak of malignancy due to decrease of tumor suppressor effect of neurofibromin. Since NF1 is a potentially progressive disease it requires longterm and regular follow-up in cooperation with a various specialties.

Keywords: neurofibromatosis, genetic disorder, variable clinical manifestation, diagnostic criteria, genetic counseling, malignancy, follow-up.