Neurofibromatosis Type

Neurofibromatosis type 1 or Recklinghausen's disease is one of the most common genetic diseases. The gene product—neurofibromin—is encoded by chromosome 17.

Nervous System Tumors

Typical peripheral nerve tumors are the fusiform and plexiform neurofibromas. They may involve the small cutaneous and visceral branches and the larger peripheral nerves anywhere along their course. Cutaneous tumors become apparent in childhood or adolescence as simple or multiple nodules or pendular masses.

A characteristic additional CNS tumor in children is the optic nerve or chiasma glioma, usually a pilocytic astrocytoma. Less common tumors are the cerebral and cerebellar astrocytomas and the spinal cord gliomas.

Systemic Disorders

Cafe-au-lait pigmentations of the skin are characteristic. They may be present at birth or develop during childhood, and their number increases with age. Skinfold freckling usually occurs in adults. Lisch nodules, benign hamaratomas of the iris, occur in adults. Pheo-chromocytoma, malignancies of various organs, and hematopoietic diseases are visceral manifestations. Dysplasias, short stature, macrocephaly, and thinning of long bones are skeletal abnormalities.

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