What are Neurocutaneous disorders?
Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.
What is a Phakomatosis?
Phakomatoses (also referred to as neurocutaneous syndromes) are a group of genetic and acquired disorders that derive their collective name from the Greek noun phakos (“lentil, spot”) and the Greek word terminations -oma (signifying a tumor or neoplasm) and -osis (signifying a process, especially a disease or abnormal …
What is NF1 disease?
Neurofibromatosis type 1 (NF1) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms. Neurofibromatosis type 2 (NF2) is much less common than NF1.
What are Neurocutaneous lesions?
Neurocutaneous syndrome is a broad term for a group of rare neurological (brain, spine, and peripheral nerve) disorders. These diseases are lifelong conditions that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. The most common disorders found in children are skin lesions.
What is axillary freckling?
Definition. The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [ from HPO]
What are Neurocutaneous markers?
What does Neurocutaneous mean?
Can NF1 cause death?
NF1 can also result in serious complications which affect diverse body systems and which are responsible for the deaths related to NF1; these include disfigurement, evolving scoliosis, cognitive or neurological impairment, vasculopathy, and malignancy, in particular, malignant tumors of peripheral and central nerve …
How long can you live with NF?
If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.
Is cafe au lait spots normal?
Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.
What is a plexiform?
A tumor that forms in the tissue that covers and protects the nerves. Plexiform neurofibromas can occur anywhere in the body outside of the brain and spinal cord. They can occur on the face (including around the eye), neck, arms, legs, back, chest, abdomen, and internal organs.
How long do you live with NF?
What are the neurocutaneous disorders?
While often rare individually, as a group, the neurocutaneous disorders represent a broad spectrum of genetically and clinically heterogeneous syndromes that are frequently encountered by neurologists.
What are the different types of RASopathies with neurocutaneous features?
RASopathies with neurocutaneous features include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome with multiple lentigines (previously called LEOPARD syndrome ), and capillary malformation-arteriovenous malformation syndrome.
What are the inheritance patterns of neurocutaneous syndromes?
Most neurocutaneous syndromes are classified as single-gene disorders, but they have autosomal dominant, autosomal recessive, or X-linked inheritance patterns ( table 5-1 ).
What are the neurologic symptoms of Central and peripheral neurocutaneous disorders?
Involvement of the central and peripheral nervous systems in neurocutaneous disorders results in diverse neurologic symptoms, including cerebral dysgenesis, brain/spinal tumors, epilepsy, cerebrovascular disease with stroke, cerebral palsy, developmental delays, intellectual disability, and peripheral neuropathy.