What are neurocutaneous syndromes?
Neurocutaneous syndromes is the term used for a group of rare neurological disorders that affect the brain, spinal cord, organs, skin, bones and peripheral nerve. Present at birth (congenital), these disorders are chronic, lifelong conditions. Each disorder has different symptoms, and can include tumors, hearing loss, seizures, and developmental problems. These disorders cannot be cured, but treatment is available to help manage symptoms and related health problems. While some of these syndromes can be diagnosed at birth, others don't have symptoms until later in life.
What are the most common neurocutaneous syndromes?
The most common types of syndromes are:
Tuberous sclerosis complex (TSC), the most common type, has symptoms that range from hard-to-treat epilepsy, to mental retardation or autism. It involves multiple organs including heart, lungs, skin, kidneys, in addition to the central nervous system.
Neurofibromatosis (NF), including NF1, NF2, and Schwannomatosis cause multiple tumors in the nervous system. The tumors express themselves in the skin, and in both the peripheral and central nervous systems. Neurofibroma tumors are the most common type; schwannomas are less common. Although tumors are usually noncancerous (benign), some may have potential for cancer growth (malignancy).
Schwannomatosis is a rare form of NF and most cases are caused by genetic mutations. The two genetic forms: are: Schwannomatosis 1 (caused by gene mutations in the SWNTS1 gene); and Schwannomatosis 2, which begins in adulthood, causing benign, encapsulated tumors throughout the body.
Sturge-Weber syndrome is of unknown cause and occurs by chance (sporadic). In some cases, other family members have hemangiomas (benign growths that are made of blood vessels). This disease includes a port-wine stain on the face and usually an angioma. It can cause seizures and/or neurologic deficits, and glaucoma (excess pressure in the eye).
Von Hippel-Lindau syndrome causes multiple organs to develop multiple tumors, including tumors in the brain, renal cells, pancreas, and vascular tumors.
