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Neurofibromatosis Type 1 (NF1)

A rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin.

PubMed Health Glossary
(Source: NIH - National Cancer Institute)

About Neurofibromatosis Type 1 (NF1)

NF1 is the most common neurofibromatosis, occurring in 1 in 3,000 to 4,000 individuals in the United States. Although many affected people inherit the disorder, between 30 and 50 percent of new cases result from a spontaneous genetic mutation of unknown cause. Once this mutation has taken place, the mutant gene can be passed to succeeding generations.

What are the signs and symptoms of NF1?

To diagnose NF1, a doctor looks for two or more of the following:

  • six or more light brown spots on the skin (often called "café-au-lait" spots), measuring more than 5 millimeters in diameter in children or more than 15 millimeters across in adolescents and adults;
  • two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves);
  • freckling in the area of the armpit or the groin;
  • two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas);
  • a tumor on the optic nerve (called an optic nerve glioma)
  • abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin);
  • a parent, sibling, or child with NF1....Read more about Neurofibromatosis Type 1

NIH - National Institute of Neurological Disorders and Stroke

What works? Research summarized

Evidence reviews

EOS 2D/3D X-ray Imaging System: A Systematic Review and Economic Evaluation

EOS is a biplane X-ray imaging system manufactured by EOS Imaging (formerly Biospace Med, Paris, France). It uses slot-scanning technology to produce a high-quality image with less irradiation than standard imaging techniques.

Drug Class Review: HMG-CoA Reductase Inhibitors (Statins) and Fixed-dose Combination Products Containing a Statin: Final Report Update 5 [Internet]

In the United States, coronary heart disease and cardiovascular disease account for nearly 40% of all deaths each year. Coronary heart disease continues to be the leading cause of mortality and a significant cause of morbidity among North Americans. In 2006, coronary heart disease claimed 607 000 lives, translating into about 1 out of every 5 deaths in the United States. High levels of cholesterol, or hypercholesterolemia, are an important risk factor for coronary heart disease. The 3-hydroxy-3-methylglutaryl-coenzyme (HMG-CoA) reductase inhibitors, also known as statins, are the most effective class of drugs for lowering serum low-density lipoprotein cholesterol concentrations. They are first-line agents for patients who require drug therapy to reduce serum low-density lipoprotein cholesterol concentrations. The purpose of this review is to compare the benefits and harms of different statins in adults and children with hypercholesterolemia.

First- and Second-Generation Antipsychotics in Children and Young Adults: Systematic Review Update [Internet]

To review the evidence on first- and second-generation antipsychotics (FGAs and SGAs) for the treatment of various psychiatric and behavioral conditions in children, adolescents, and young adults (ages ≤ 24 years).

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Summaries for consumers

Childhood Astrocytomas Treatment (PDQ®): Patient Version

Childhood astrocytoma treatment options include surgery, observation, radiation therapy, chemotherapy, high-dose chemotherapy with stem cell transplant, and targeted therapy. Learn more about the treatment of newly diagnosed and recurrent astrocytoma in this expert-reviewed summary.

Childhood Soft Tissue Sarcoma Treatment (PDQ®): Patient Version

Childhood soft tissue sarcoma treatment options include surgery, radiation therapy, chemotherapy, observation, targeted therapy, immunotherapy and other medications.  Learn more about the diagnosis and treatment of the many types of childhood soft tissue sarcoma in this expert-reviewed summary.

Myelodysplastic/ Myeloproliferative Neoplasms Treatment (PDQ®): Patient Version

Myelodysplastic/myeloproliferative neoplasms treatment options include supportive care, chemotherapy, radiation therapy, surgery, biologic/targeted therapy, and stem cell transplant. Learn more about these diseases in this expert-reviewed summary.

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Terms to know

Genetic, used as an adjective, refers to genes.
Myelin Sheath
A fatty covering that forms a protective sheath around nerve fibers and dramatically speeds the transmission of nerve signals.
A benign tumor that develops from the cells and tissues that cover nerves.
Peripheral Nerves
The nerves outside of the brain and spinal cord.
Schwann Cells
Schwann cells function to support neurons in the peripheral nervous system. Schwann cells wrap around axons to form the myelin sheath.
A sideways curvature of the spine.

More about Neurofibromatosis Type 1

Photo of a child

Also called: Neurofibromatosis 1, Von Recklinghausen disease

Other terms to know: See all 6
Genetic, Myelin Sheath, Neurofibroma

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