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Neurofibromatosis (NF)

Neurofibromatosis (NF)

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Neurofibromatosis (NF)

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  1. Neurofibromatosis (NF) By Angela M.

  2. Overview • Discovered by Friedrich Daniel von Recklinghausen in 1882 • Genetic neurological disorder that affects cell growth in nerve tissue • Occurs throughout the world and affects men and women of all races and ethnic groups equally, but is more prevalent in cystic fibrosis, Duchenne muscular dystrophy and Huntington’s disease combined • 3 different types: Type 1, Type 2, and Schwannomatosis

  3. Type 1 • Also called von Recklinghausen Neurofibromatosis • Transmitted on chromosome 17 • Caused by a mutation or deletion (very rarely) of the NF1 gene • Occurs in late childhood • Occurs in 1 to 3,000 births worldwide

  4. Type 2 • Transmitted on chromosome 22 • Caused by mutation or deletion (very rarely) of the NF2 gene • Occurs in late teens / early 20s • Occurs in 1 to 25,000 people worldwide

  5. Schwannomatosis • Rare form in which multiple benign tumors form in peripheral nerve fiber cells • Occurs in 1 to 40,000 people worldwide

  6. How you get it • Inherited as an autosomal dominant trait, but can also result from spontaneous genetic mutations • Parent with the disorder has a 50% chance of passing it on to his/her children • Parent can only pass his/her type of NF to the child 50% Nn – affected 50% nn - normal

  7. Signs and Symptoms • Type 1: • Multiple skin lesions that appear during infancy • Benign tumors (may or may not be painful) may develop on skin (cutaneous), under skin(subcutaneous), and in connective nerve tissues (schwannomas) in adolescence; in 2-5% of cases tumors become malignant • Curvature of the spine (scoliosis) • Dizziness • Enlargement and deformity of bones (may cause chronic pain) • Hearing loss • Learning disabilities • Tumors of optic nerves (optic gliomas) – may cause blurry vision, vision loss, and Lisch nodules ( type of benign tumor) on iris

  8. Signs and Symptoms (Ctn.) • Type 2: • Tumors frequently develop on 8th cranial nerve causing symptoms such as: • Dizziness • Ringing in ears • Loss of balance • Significant hearing loss • Schwannomatosis: • Chronic pain in any part of the body

  9. Treatment / Prevention • No cure • Cannot be prevented • Surgery • Can remove painful cutaneous and subcutaneous tumors and those that occur on visible areas of the body • May also remove schwannomas and nerve tissue tumors that cause pain, sensory loss, and loss of function • Radiation • Shrink tumors

  10. Prognosis • Type 1: • Most have normal life expectancy, but severe cases may reduce life expectancy by up to 15 years • Type 2: • Depends on age of onset and number and location of tumors • Prompt diagnosis and treatment may improve life expectancy up to more than 15 years following diagnosis • Schwannomatosis: • Too rare to be determined