WHAT IS IT?

-Changes in skin coloring (pigmentation) Can lead to growth of tumors on the skin and/or brain -Begins in early childhood with cafaulait spots Spots increase in size as the individual grows -Adults can develop neurofibomos (noncancerous tumors) Can lead to cancerous tumors that grow along the nerves during adolescence

Neurofibromatosis

Type 1
PROMOTION
MAY 17 is the world NF awareness day! This year, October 20, 2013 is the walk for NF in LA! The Children Tumor Foundation promotes awareness, conducts research studies and is the closest chapter located in Los Angeles. The Elephant Man was mistake to have Neurofibromatosis; however he acquires a rare disease: Proteus Syndrome.

CAUSES Neurofibromatosis occurs with the cause of a mutated chromosome 17q11.2. The gene that is mutated codes for the protein neurofibromatosis type 1(NF1).

MaryAnnCabrales May 21, 2013 Period: 3

SYMPTOMS
High blood pressure (hypertension) Short stature Large head (macrocephaly) Skeletal abnormalities (scoliosis) Learning disabilities (ADHD) INHERITANCE
Neurofibromatosis Type 1 is: autosomal dominant. In order to pass this disorder, one copy of the gene has to be inherited. The gene codes for the protein neurofibromatosis; usually referred to as tumor suppressor protein.

DISCOVERY

Neurofibromatosis was first described by a German pathologist, Friedrich Daniel von Recklinghausen in 1882. Neurofibromatosis is also known as von Rechlinghausen.

DIAGNOSIS Sample of blood can be obtained by affected individuals. DNA can be isolate and the 2 copies of NF1 gene are analyzed (compared to normal sequence of the NF1 gene)

INCIDENCE
1 in every 3,000 to 4,000 people will obtain this disorder worldwide.

Embryo: - In vitro fertilization (IVF): The egg is fertilized by the sperm outside the body. - Preimplantion genetic diagnosis (PGD) is a possible factor to screen for NF1. Fetus: - Chorionic villus sampling (chromosome or genetic disorder in the fetus) and/or amniocentesis (amniotic fluid) used to detect NF1.

TREATMENT No cure Therapy for patients: Program of treatment by a team of specialist to manage symptoms or complications. Surgery needed when tumors compress organs Families with NF have screening and counseling is available.

SUPPORT The Childrens Hospital in Los Angeles holds a Neurocutaneous Disorder Program. St. Louis Childrens Hospital in Missouri and John Hopkins University in Maryland conduct studies strictly on Neurofibromatosis