Neurofibromatosis(NF1) a disease that causes tumors to form in the brain, spinal cords and nerves

SIGNS/SYMPTOMS

Symptoms: flat, light brown (cafe au lait spots) these dark brown spots are harmless,if a person should have more than 6 spots then it is a strong indication of NF1.
Symptoms: soft bumps on or under the skin (neurofibromas). Cells begin to form adnormally and cause benigen tumors all over the body in and outside the body.
Symptoms: larger average size heads. People with NF1 tend to have lager heads due to increased brain volume
Symptoms: freckeling in the groin and armpit area. occurs around ages 3-5 smaller than cafe au lait spots and tend to appear in clusters in skin fold
Symptoms: tiny bumps on the iris not harmful but can make a person vision worse (lisch nodules)
Symptoms: Abnormal bone growth and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg

CAUSES

50% of NF1 patients get it from there parents and the other 50% get it even when the parents don't have it
NF1 is extremely large which mapped to chromosome 17q11, and has one of the highest gene mutations
NF1 regulates neurofibromin,(protein that helps prevent the development of tumors)

OCCURRENCE

NF1 happens equally in both male and female. 1 in 2,500 to 3,000 babies have NF1.Affects all races and ethnicities
Picture of genes and the NF1 gene is circled in red, the gene is passed down from each generation.
top picture: bunch of tumors in a very close area Bottom picture: cafe au lait spots on a flap of skim under the arm
FOR HELP: Mayo Clinic.com, N.O.R.D. (NATIONAL ORGANIZATION FOR RAE DISORDERS).com, Genetic and rare diseases information center.com
FOR MORE INFORMATION CONTACT

Dr.Hodge

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