Neurocutaneous disorders

Formerly called phakomatoses. Neurocutaneous disorders (NCD) are a group of conditions, each with unique neurologic findings and benign cutaneous lesions (NB: both skin and the CNS derive embryologically from ectoderm), usually with dysplasia of other organ systems (often including the eyes).

★ With the exception of Sturge-Weber and ataxia-telangiectasia, all exhibit autosomal dominant inheritance. There is also a high rate of spontaneous mutations. These syndromes should be kept in mind in a pediatric patient with a tumor, and other stigmata of these syndromes should be sought.

“Neurocutaneous disorders” is a catch-all phrase that includes all disorders involving both the nervous systems and the skin. These may range from disorders in which cutaneous findings are essential to diagnosis to those with less significant involvement of the skin. Because of the variety of disorders that involve the skin and the nervous system ¹⁾.

NCDs that are more likely to come to the attention of the neurosurgeon:

1. neurofibromatosis.

2. tuberous sclerosis

3. Von Hippel-Lindau disease

4. Sturge-Weber syndrome

5. racemose angioma (Wyburn-Mason syndrome): midbrain and retinal AVMs