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Diseases » Neurofibromatosis » Summary

What is Neurofibromatosis?

What is Neurofibromatosis?

  • Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
  • Neurofibromatosis: Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath neoplasms, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17. -- 2003
    Source - Diseases Database
  • Neurofibromatosis: autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities.
    Source - WordNet 2.1

Neurofibromatosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neurofibromatosis, or a subtype of Neurofibromatosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Neurofibromatosis as a "rare disease".
Source - Orphanet

Neurofibromatosis: Introduction

Types of Neurofibromatosis:

Types of Neurofibromatosis:

Broader types of Neurofibromatosis:

How many people get Neurofibromatosis?

Incidence (annual) of Neurofibromatosis: about 1 in 30001.
Incidence Rate of Neurofibromatosis: approx 1 in 3,000 or 0.03% or 90,666 people in USA [about data]

How serious is Neurofibromatosis?

Complications of Neurofibromatosis: see complications of Neurofibromatosis
Prognosis of Neurofibromatosis: In most cases, symptoms of NF1 are mild, and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening. (Source: excerpt from NINDS Neurofibromatosis Information Page: NINDS)

What causes Neurofibromatosis?

Causes of Neurofibromatosis: see causes of Neurofibromatosis
Causes of Neurofibromatosis: Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. (Source: excerpt from NINDS Neurofibromatosis Information Page: NINDS)

What are the symptoms of Neurofibromatosis?

Symptoms of Neurofibromatosis: see symptoms of Neurofibromatosis

Complications of Neurofibromatosis: see complications of Neurofibromatosis

Can anyone else get Neurofibromatosis?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
More information: see contagiousness of Neurofibromatosis
Inheritance: see inheritance of Neurofibromatosis

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Neurofibromatosis: Testing

Diagnostic testing: see tests for Neurofibromatosis.

Misdiagnosis: see misdiagnosis and Neurofibromatosis.

How is it treated?

Treatments for Neurofibromatosis: see treatments for Neurofibromatosis
Research for Neurofibromatosis: see research for Neurofibromatosis

Organs Affected by Neurofibromatosis:

Organs and body systems related to Neurofibromatosis include:

Name and Aliases of Neurofibromatosis

Main name of condition: Neurofibromatosis

Class of Condition for Neurofibromatosis: genetic, aut.dom

Other names or spellings for Neurofibromatosis:

von Recklinghausen's disease

Neurofibromatosis type 1 Source - Diseases Database

Von Recklinghausen's disease
Source - WordNet 2.1

NF1, Neurofibromatosis type 1, Recklinghausen's Disease, Type 1 neurofibromatosis
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Neurofibromatosis: Related Conditions

Research the causes of these diseases that are similar to, or related to, Neurofibromatosis:

1. Pathophysiology of Disease, Stephen J. McPhee, Vishwanash R. Lingappa, Willim F. Ganong, Jack D. Lang, Prentice Hall, 1995

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