The extent and severity of manifestations of NF vary greatly from person to person and varies within the same family.
Although isolated café-au-lait spots can be found in many people without NF, individuals with more than 5 of these have a good chance of also having NF1, particularly if they appear on the skin within the first 5 years of life. More than 5 café-au-lait spots are found in 1.8% of newborns, 25-40% of children and 14% of adults with NF1. Freckling under the armpits is a clear sign of NF1.
After puberty, Lisch nodules are present in 97-100% of patients with NF1. Clinically, they do not cause any problems but help to confirm diagnosis.
There are basically 4 types of neurofibromas found in NF1:
Cutaneous: superficial, soft button-like tumours with no malignant potential
Subcutaneous: tumours in the dermis that may cause localised pain or tenderness
Nodular plexiform: large network of tumours involving the dorsal nerve roots
Diffuse plexiform: invasive tumours that may involve all layers of skin, muscle, bone and blood vessels
One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system. Neurocutaneous disorders are caused by abnormal development of cells in the embryonic stage, leading to tumors in various parts of the body, including the skin, organs, bones, brain and spinal cord. Disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders.
There are 2 types of neurofibromatosis: NF1 and NF2, and a related condition called schwannomatosis. NF-1 affects about 1 in 3,500 live births, or about 100,000 people in the United States. People with NF typically have café-au-lait spots; soft bumps on or under the skin called neurofibromas; and tiny bumps on the iris called Lisch nodules. NF can cause a wide range of effects throughout the body, including learning disabilities; hyperactivity; headaches; hearing problems; short stature; facial drop; heart problems; numbness and weakness in arms or legs; balance problems; and bone deformities such as curvature of the spine.
Neurofibromatosis patients “are best managed by a multidisciplinary team of specialists aiming to maximize healthy growth and development and to treat complications as early as possible,” the article says. At Loyola Medicine, highly experienced specialists work as part of a clinically integrated care team – including geneticists, otolaryngologists, head and neck surgeons, neurological surgeons, neurologists, ophthalmologists and other specialists – to provide state-of-the-art management for neurofibromatosis.
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. Less common neurocutaneous disorders include Von Hippel-Lindau disease, hypomelanosis of Ito, pseudoxanthoma elasticum, xeroderma pigmentosum, ataxia-telangiectasia and Fabry disease.
http://www.newswise.com/articles/60-genetic-disorders-affect-skin-and-nervous-system
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