engleski

Neurofibromatosis type I associated with dysplastic nevus syndrome

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that primarily affects the development and growth of neural cell tissues. It causes tumours to grow on nerves, and produce other abnormalities such as skin changes and bone deformities. Dysplastic nevus syndrome (DNS) represents multiple atypical nevi associated with polygenetic inheritance pattern and may rarely occur together with NF- 1. DNS is a marker of increased melanoma risk while melanoma has been rarely reported in patients with NF-1. We describe a case of NF-1 type A with DNS presenting with multiple neural tumors, cafe-au-lait spots, hamartoms in globus palidum and pigmented melanocytic iris hamartomas (Lisch nodules). The importance of close follow-up of nevi of such patients with NF-1 and DNS for the development of melanoma as well as other NF-1 associated skin disorders and with multidisciplinary approach to other associated diseases is highlighted.

Neurofibromatosis type 1 ; dysplastic nevus syndrome ; melanoma.

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