Neurofibromatosis type 1

Discussion:

NF type 1 is one of the phakomatoses (neurocutaneous syndromes) with cutaneous and neural lesions. Cutaneous lesions include cafe au lait spots and axillary/inguinal freckling. Neurological lesions include optic nerve gliomas, cerebral and spinal astrocytomas and neurofibromas and malignant peripheral nerve sheath tumors (MPNST).  There is also association with skeletal dysplasias e.g. kyphoscoliosis, sphenoid wing dysplasia and dural ectasia.

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