Some people with NF2 experience a gene mutation that occurs for unknown reasons spontaneous mutation , while others inherit it from their parent s autosomal dominant inheritance pattern. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths of different sizes and shapes may begin to appear on the skin.
There may be fewer than 10 of these growths or thousands of them. Additional features may include an unusually large head macrocephaly and relatively short stature. Seizures may occur, learning disabilities, speech problems or hyperactivity may be experienced.
Depending on the exact location and size of the VS, any of the following may occur, alone or in combination with:. They should receive an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss.
Any unusual growth patterns are generally investigated. Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or month intervals.
Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss.
Consequently, encouraging in vitro and in vivo results are emerging. Insufficient efficacy and safety in in vivo data do not permit the routine use of these drugs in clinical practice. This may include:. As a child gets older, they should ideally still be seen once a year. Over time, they'll learn to monitor their own health so they know when to seek help. However, they may need more assessments if they develop complex health needs.
Contact your specialist centre if your child develops any new symptoms in between their annual examinations or if their existing symptoms get worse. Sometimes they fade as people get older. If your child finds these patches particularly distressing, one option is to use make-up to cover them up. Camouflage make-up specially designed for covering up skin blemishes is available over the counter at pharmacies.
The tumours on or under the skin neurofibromas may not require any treatment if they're small. However, treatment can be used if the neurofibromas are painful or causing emotional distress. Plastic surgery is usually needed. The surgeon cuts the neurofibromas out of the body before resealing the skin. Depending on the size and location of the neurofibromas, they may be able to be treated with laser surgery or an electric current electrodessication instead.
The results of surgery are usually good, although the procedure can leave some thickened scarring and there may occasionally be a delay in wound healing.
Surgery for plexiform neurofibromas painful neurofibromas that develop inside branches of nerves can be more challenging. This is because these types of tumours often spread into nearby tissue and may press on important bone structures. Damage to the nerves can sometimes occur after surgery. This can lead to complications such as a loss of sensation or an inability to move a part of the body. Symptoms : Treatment Options: ADHD medications behavioral therapy bony lesions bracing observation surgery brain tumors observation surgery drug therapy currently under clinical investigation dermal neurofibromas observation surgery drug therapy currently under clinical investigation learning disabilities IEP medications clinical trials malignant peripheral nerve sheath tumors chemotherapy radiation therapy optic pathway glioma observation chemotherapy pain medications acupuncture behavioral interventions plexiform tumors chemotherapy radiation therapy surgery drug therapy currently under clinical investigation vascular complications surgery observation medications.
Request an Appointment Maryland Patients For assistance with making an appointment, please contact the Johns Hopkins Comprehensive Neurofibromatosis Center at Already a Patient? Traveling for Care? Show me more I want to
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