Obraz kliniczny neurofibromatozy typu 1 na podstawie obserwowanych przypadków

Neurofibromatosis type 1 (NF1) eponymically called von Recklinghausen disease is autosomal dominant disease and remains an example of phakomatose. They are congenital, genetic disorders affecting mainly nervous and integumentary system. The aim of this study is to report six cases of NF1 in which diagnostic management is based on clinical findings in physical examination: observing characteristic dermatological and ophthalmological manifestations such as cafe au lait spots, Crowe sign (axillary and inguinal freckling), neurofibromas or Lish nodules within the eyes. Existence of those characteristic findings frequently precedes important pathologies (neoplasia) in different areas of the body, especially in nervous system. In the paper we emphasize that genetic MLPA test does not always correlate with clinical manifestation, what had been observed in our patients as well.