N EUROFIBROMATOSIS (NF) By Angela M.

O VERVIEW 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

T YPE 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

T YPE 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

S CHWANNOMATOSIS Rare form in which multiple benign tumors form in peripheral nerve fiber cells Occurs in 1 to 40,000 people worldwide

H OW 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 Nn nNnnn nNnnn

S IGNS AND S YMPTOMS 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

S IGNS AND S YMPTOMS (C TN.) Type 2: Tumors frequently develop on 8 th 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

T REATMENT / P REVENTION 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

P ROGNOSIS 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