neurocutaneous disorders
Also known as phakomatoses, these are a variety of diseases which have neurologic as well as cutaneous findings.  They also have a tendency to occur in families.  Four syndromes which may be seen by a neurosurgeon are
  • tuberous sclerosis
  • von Hippel-Lindau disease
  • neurofibromatosis
  • Sturge Weber syndrome

Tuberous sclerosis: also known as Bourneville's disease; patients have hamartomas or many organs including the skin and brain.  These patients may have seizures, mental retardation and sebaceous adenomas.

von Hippel-Lindau disease:  these patients tend to develop angiomas (blood vessel abnormalities) in the retina, hemangioblastomas (often of cerebellum) of the brain and spinal cord, renal cell carcinoma, pheochromocytomas, and other abnormalities.  If the lesion in the cerebellum becomes the problem, patients may present with nausea, vomiting, and headache.

neurofibromatosis: there are two types, neurofibromatosis 1 (nf1) and neurofibromatosis 2 (nf2).

 Nf1 patients may have "cafe-au-lait" spots on the skin, neurofibromas of any type, as well as other lesions.  Associated with this may be a variety of other tumors in the brain and the rest of the body.

Nf2 patients may have acoustic neuromas on both sides, or a relative with nf2 and tumors.  These patients may also have a number of other tumors within the central nervous system.

Sturge Weber syndrome: These patients may have cerebral atrophy, "port-wine" nevus in the distribution of the ophthalmic division of the trigeminal nerve (around and above the eye on one side of the face), and seizures on the opposite side of the body.  There are calcifications in the cortex of the brain.


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