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Neurocutaneous Melanosis

Neurocutaneous Melanosis is a rare congenital syndrome characterized by the presence of large or multiple “nevi” or moles (skin pigmentation) which are also present in the layers of tissue that cover the brain and spinal cord. (This syndrome does not appear to be hereditary nor genetic.)

These babies are born with many “birthmarks” or “skin pigmentation” or “moles” all over their little bodies, but these babies are different from others who have these types of markings. These babies, with Neurocutaneous Melanosis, also have them in the layers of tissue that cover the brain and spinal cord, which causes swelling and pressure inside the babies’ heads. These markings continue to grow as the child does, and other than surgically placing a shunt in the head for a while, there’s not much that can be done. These babies usually only survive for a few years.

Most patients with Neurocutaneous Melanosis present in the first 2 years of life with neurologic manifestations of increased intracranial pressure, mass lesions, or spinal cord compression.

For more information, follow these links:

National Institutes of Health

OrphanNet (a rare disease resource)

 

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