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Doctor insights on: How Can You Tell If Someone Has Neurofibromatosis

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Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Help! Is it possible to have a lot of cafe au lait spots and not have neurofibromatosis?

Possible: NIH diagnostic criteria for NF1 with two or more of following features:1)6 or more café-au-lait macules over 5 mm in diameter prepubertal individuals over 15 mm in greatest diameter in postpubertal..2) 2or more neurofibromas or one plexiform neurofibroma.3)Freckling in armpit or groin areas4)Optic glioma (optic nerve tumor)5) > 2 Lisch nodules(iris of eye)6)typical bone lesions 7)1deg relative nf1 ...Read more

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Dr. Gerald Mandell
160 doctors shared insights

Neurofibromatosis (Definition)

Neurofibromatosis is a genetic condition characterized by caf_ au lait spots, which are pigmented patches of skin, and benign ...Read more


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How can you tell if someone has neurofibromatosis?

What type?: Nf-1 has classic skin manifestations - one just examines skin to see if criteria for the number/size of nevi and ash-leaf spots on the skin are seen. ...Read more

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Can you tell me about neurofibromatosis is a rare disease?

Can you tell me about neurofibromatosis is a rare disease?

Incidence of NF 1, : caused by a mutant Neurofibromin gene on chromosome 17, is 1:2500 - 1:3000. Each child of a person with NF 1 has a 50% chance of inheriting it. Medical & neurodevelopmental manifestations vary widely depending on size & location of nerve tumors on/under skin, in the brain & peripheral nervous system & in other organs. Learning disorders & ADHD often occur. See www.ctf.org for more information. ...Read more

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Can you tell me about an experience with neurofibromatosis?

Can you tell me about an experience with neurofibromatosis?

Many forms: Several signs of nf1, the main one six or more flat brown spots over 5 mm in greatest diameter in children and over 15 mm in greatest diameter in post-pubertal individuals, two or more soft nodules or neurofibromas or 1 plexiform neurofibroma, freckling in the axillary or groin regions, tumors of optic nerve, gliomas, bony abnormality such as scoliosis, bone overgrowth or congenital fracture. ...Read more

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Can you tell me about the life expectancy of a person with neurofibromatosis type 2?

Shortened: Life expectancy for people with NF-2 is generally shortened compared to non-affected and NF-1 affected people, but it is also highly dependent on a number of potential conditions, and available treatments. I've added a link that is more comprehensive, and I hope it helps. http://www.ctf.org/pdf/brochures/NF2_Info_for_Patients_Families.pdf ...Read more

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How long can someone with neurofibromatosis type 2 live?

How long can someone with neurofibromatosis type 2 live?

Neurofibromatosis: It depends on how severely affected the patient is with the disorder. The earlier the diagnosis and the most number of lesions and location (particularly in the spine and brain) diagnosed can affect how long someone will live. In my practice I have adults doing well in the midlife yet have lost patients to the disorder as teenagers so it is very variable. ...Read more

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What is neurofibromatosis?

What is neurofibromatosis?

Nerve ; brain tumors: Neurofibromatosis, inherited problem, with varying degrees of involvement from mild to severe. Neurofibroma is benign tumor that originates from the nerve cells.Tumors usually arise from nerves in the skin or jut under the skin.Type 1 usually appears in children with brown flat skin spots, freckling in armpits, and soft tumors under the skin and sometimes bone deformity.Type 2 usually brain tumors. ...Read more