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NEUROFIBROMATOSIS -  NF1

NF1 is the more common form of neurofibromatosis. It is sometimes referred to as "peripheral neurofibromatosis," or Von Recklinghausen's Disease. There are many affected people who inherit NF1, but between 30 and 50 percent of new cases are spontaneous.

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Those with NF1 typically have café au lait spots light – brown circular markings on the skin and freckling under the arm or in the groin area. Lisch nodules, which are brownish red spots in the iris of the eye, will sometimes accompany these spots. Tumors can form in different parts of the body with NF1. These can be small tumors called neurofibromas and can appear on or below the surface of the skin. There can also be tumors or growths involving the skin and deeper tissue, including the nerves, called plexiform neurofibromas. Not often, but occasionally, plexiform neurofibromas can transform into a dangerous cancer known as neurofibrosarcoma.

Children with NF1 often have learning differences and can develop physical growth problems. They may be shorter or have a slightly larger head than an average person. NF1 can also affect the way bones grow. A few people experience shrinkage of a bone, called atrophy, or bending or fracture of a long bone that will not heal, called pseudarthrosis. Scoliosis, which is curvature of the spine, is also common in people with NF1.

NF1 can also affect the brain. In a small number of people, NF1 can cause brain tumors. Nerves to the eye can be abnormally large, which indicates an optic glioma – a growth on the nerve to the eye. Frequently, on brain scans, doctors find bright spots, not to be confused with brain tumors, that are simply another indicator that a person has NF.

NF1 can affect almost any organ in the body, though many people have only a few difficulties. In some cases, patients with NF1 may have only café au lait spots and neurofibromas, but others may experience more difficult problems. NF1 is unpredictable – no two people are affected the same way, not even within the same family, and no doctor can tell you in advance what will happen to you or another person with NF.

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WHEN DO SYMPTOMS APPEAR WITH NF1?

Signs of NF1 are usually visible the first year of life, particularly those on the skin, and almost always by the time a child is about 10 years old. As mentioned before, Lisch nodules on the iris of the eye are commonly developed in teenagers and adults but not usually found in young children. Neurofibromas become evident at around 10 to 15 years of age. Neurofibroma development and growth tend to be associated with hormonal changes that occur in teenage years and during pregnancy. In most cases, symptoms are mild and patients live normal and productive lives; however, NF1 can be severely debilitating.

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NF1 SYMPTOMS

  • seizures

  • headaches

  • brain tumors

  • brain blood vessel defects

  • learning challenges

  • macrophely – oversized head

  • optic glioma (tumor of the nerve)

  • Lisch nodules (benign pigmented tumors in the iris)

  • speech impairments

  • high blood pressure

  • freckling (where skin meets skin: armpits, groin, under the breasts)

  • neurofibroma (may appear anywhere on skin)

  • scoliosis (abnormal curvature of the spine)

  • digestive tract neurofibromas (may cause pain, vomiting, chronic constipation or diarrhea)

  • neurofibroma café au lait spots (similar to dark birthmarks – may occur anywhere)

  • early or delayed puberty (neurofibromas may increase in size and number and may also occur during pregnancy)

  • pseudarthrosis (failure of a fracture to heal)

  • knock-knees or bowlegs (genuvalgum or genuvarum)

  • bone deformities

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Other complications may include delay in learning to talk or walk, short stature, poor school performance, increase in size and number of tumors during pregnancy, severe itching, psychosocial burdens and cancer.

Source: NF, Inc.

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HOW IS NF1 DIAGNOSED?

The National Institutes of Health offers the following guidelines. Some people with NF1 don't have any changes in their appearance whatsoever. However, when diagnosing, a physician will look for two or more of the following:

  • Six or more café-au-lait-macules* (brown skin spots) » greater than 5mm in pre-pubertal children » greater than 15mm in post-pubertal individuals

  • Freckling in axilla (armpit) or groin*

  • Two or more neurofibroma tumors of any type, or one plexiform neurofibroma

  • Two or more Lisch nodules or two or more choroidal abnormalities

  • Optic pathway glioma (tumor of the visual pathway)

  • A distinctive osseous lesion such as: sphenoid dysplasia; anterolateral bowing of tibia (tibial dysplasia); or pseudarthrosis of a long bone

  • A pathogenic NF1 gene variant **

  • A parent with NF1 by the above criteria

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HOW IS NF1 TREATED?

While there is no cure for NF1, current treatments are aimed at controlling symptoms and there is an FDA - approved treatment for NF1 inoperable plexiform neurofibromas . Surgery can help some bone malformations. For scoliosis, bone surgery may be combined with the use of a back brace. Painful or disfiguring tumors may be removed with surgery; however, there is a chance that the tumors could grow back. Tumors may become malignant in rare instances and could be treated with surgery, radiation or chemotherapy. Seizures can be treated with antiepileptic drugs, and high blood pressure can be treated with antihypertensives. Learning disabilities respond to appropriate counseling and therapy.

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MEDICAL EVALUATION AND FOLLOW-UP (NF1)

The first time the NF1 patient is seen by a specialist in NF, there are certain procedures that should be completed.

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  1. A personal medical history

  2. A family history and pedigree construction

  3. A physical examination focusing on the skin, skeleton and nervous system

  4. A slit lamp examination by an ophthalmologist familiar with NF

  5. IQ, psychological or cognitive testing is warranted for children in school or adults with reading, work or learning problems

  6. A CT scan or MRI of brain and orbits

  7. Regular x-rays of any bony abnormality

  8. An audiogram for NF1 patients with hearing or learning problems

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Follow-up examinations should be done at least at yearly intervals. These follow-up exams should focus on those items found previously and on any items that are to be anticipated based on the patient's age.

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