One of the most common genetic disorders is called neurofibromatosis that causes brown spots on the skin and benign tumours on the brain, spinal cord and other parts of the nervous system.
“Neurofibromatosis is one of at least 60 genetic diseases called neurocutaneous disorders that involve the skin, central nervous system, and/or peripheral nervous system,” said the team from Loyola University Medical Centre and Loyola University Chicago. Neurocutaneo disorders are caused by abnormal development of cells in the embryonic stage, leading to tumours in various parts of the body.
Disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders. Neurofibromatosis patients “are best managed by a multidisciplinary team of specialists aiming to maximise healthy growth and development and to treat complications as early as possible”, wrote Anna Carolina Paiva Costa T. Figueiredo, Nikolas Mata-Machado, Matthew McCoyd, and Jose Biller.
Among the other more common neurocutaneous disorders are tuberous sclerosis complex, which affects about 1 in 5,8000 newborns and Sturge-Weber syndrome, which affects between 1 in 20,000 and 1 in 50,000 newborns.