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neurofibromatosis

 
Medical Encyclopedia: Neurofibromatosis
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Definition

Neurofibromatosis (NF), or von Recklinghausen disease, is a genetic disease in which patients develop multiple soft tumors (neurofibromas). These tumors occur under the skin and throughout the nervous system.

Description

Neural crest cells are primitive cells which exist during fetal development. These cells eventually turn into:

  • cells which form nerves throughout the brain, spinal cord, and body
  • cells which serve as coverings around the nerves that course through the body
  • pigment cells, which provide color to structures
  • the meninges, the thin, membranous coverings of the brain and spinal cord
  • cells which ultimately develop into the bony structures of the head and neck

In neurofibromatosis, a genetic defect causes these neural crest cells to develop abnormally. This results in numerous tumors and malformations of the nerves, bones, and skin.

Neurofibromatosis occurs in about one of every 4, 000 births. Two types of NF exist, NF-1 (90% of all cases), and NF-2 (10% of all cases).

— Rosalyn Carson-DeWitt, MD


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Dictionary: neu·ro·fi·bro·ma·to·sis   (nʊr'ō-fī'brō-mə-tō'sĭs, nyʊr'-) pronunciation
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n. (Abbr. NF)
A genetic disease characterized by the formation of neurofibromas, sometimes accompanied by physical deformation and a predisposition to brain tumors and various forms of cancer.


Neurological Disorder:

Neurofibromatosis

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Definition

Neurofibromatosis (NF) is a genetic condition in which fleshy tumors called neurofibromas grow throughout the body. Neurofibromatosis was first written up in the medical literature in 1882 by a German physician, Dr. Friedrich Daniel von Recklinghausen.

Description

Neurofibromas are tumors that are composed of the fibrous substance that covers nerve cells. These neurofibromas grow along the nerves in the body (the peripheral nerves), and cause skin and bone abnormalities. Furthermore, while neurofibromas initially start out as benign (non-cancerous) growths, 3–5% of all neurofibromas are converted into malignant (cancerous) tumors. Neurofibromatosis patients are also at risk of developing other types of cancerous tumors of the nervous system.

Neurofibromatosis is divided into two types, NF1 and NF2. NF1, also called Von Recklinghausen disease or peripheral neurofibromatosis, is the most common. Visible skin signs of NF1 tend to be present at birth, or certainly by about age 10. NF1 causes predominantly skin and bone changes, as well as problems due to the growing neurofibromas exerting damaging pressure on peripheral nerves. NF2, also called central neurofibromatosis or bilateral acoustic neurofibromatosis, is less common. Its predominant problem involves neurofibromas growing on the eighth cranial nerve (also known as the acoustic or auditory nerve). These tumors interfere with the functioning of the cranial nerve VIII, causing serious hearing impairment or even profound deafness, as well as a variety of symptoms due to pressure on adjacent nerves that serve the head and neck areas.

Demographics

NF1 occurs in one out of 4,000 births; NF2 occurs in one out of 40,000 births. Males and females are equally affected. In the United States, about 100,000 people are identified as having either NF1 or NF2.

Causes and symptoms

Neurofibromatosis is a genetic disease that is inherited in an autosomal dominant fashion, meaning that only one parent with neurofibromatosis is required to pass on the disease to offspring. Half of all cases of neurofibromatosis is inherited from a parent with the disorder; the other half of cases of neurofibromatosis does not have a history of the disease in a parent. They are considered to have developed the disease due to a spontaneous mutation, which can then be passed on to the patient's own offspring. When one parent has neurofibromatosis, each child has a 50% chance of inheriting the condition.

Neurofibromatosis 1

Patients with NF1 are most often diagnosed in childhood or even infancy. The most common characteristics of NF1 include:

  • cafe-au-lait macules (light brown, flat skin patches)
  • freckles in the armpit and groin areas (axillary and inguinal freckling)
  • neurofibromas on and under the skin, ranging from millimeters to inches (centimeters) in size (an individual may have anywhere from several to thousands of these soft, rubbery, flesh-colored tumors)
  • Lisch nodules, tumors within the iris of the eye
  • vision problems, probably due to gliomas (tumors made of cells called glial cells that serve a supportive function within the central nervous system) located within or exerting pressure on the optic nerves
  • learning problems or frank mental retardation
  • scoliosis (side-to-side curvature of the spine)
  • high blood pressure
  • short adult height
  • early (precocious) puberty
  • increased risk of malignant brain and spinal cord tumors, kidney tumors (Wilms' tumor), adrenal tumors (pheochromocytoma), leukemia (cancer of blood cells), and tumors of the tendons, muscles, or connective tissue (rhabdomyosarcoma)

Neurofibromatosis 2

The most common characteristics of NF2 include:

  • hearing problems due to neurofibromas in both acoustic nerves
  • cataracts, the abnormal clouding of the lens of the eye
  • headache, pain or numbness in the face
  • problems with balance and coordination when walking, resulting in unsteadiness
  • ringing in the ears (tinnitus)
  • cafe-au-lait macules (many fewer than in NF1)
  • neurofibromas on and under the skin (many fewer than in NF1)

Diagnosis

NF1 is diagnosed when the patient has at least two of the following criteria:

  • six or more cafe-au-lait macules that measure more than 0.2 in (5 mm) in children before puberty, or that measure more than 0.6 in (15 mm) in patients after puberty
  • demonstration of two or more neurofibromas
  • axillary or inguinal freckling
  • presence of optic glioma
  • presence of two or more Lisch nodules, diagnosed through slit-lamp examination (a slit-lamp is a micro-scope with an extremely strong light that can be focused into a slit in order to examine the eye)
  • bone abnormalities such as defects of the skull bone (sphenoid wing) or abnormal thinning of the usually dense outer layer of the long thigh, leg, or arm bones
  • a parent, sibling, or child who has been diagnosed with NF1

NF2 is diagnosed when the patient has at least one of the following criteria:

  • gadolinium-enhanced magnetic resonance imaging (MRI) scan or other appropriate imaging study that demonstrates tumors of the two cranial nerves VIII
  • a parent, sibling, or child who has been diagnosed with NF2, and has either a diagnosed tumor on one cranial nerve VIII or at least two of the following: neurofibroma, meningioma (tumor of the membrane that covers the spinal cord and brain [meninges]), glioma (tumor composed of the supportive cells called glial cells), schwannoma (tumor composed of the schwann cells that normally wrap around nerves throughout the body, creating a sheath that both insulates the nerves and allows nerve conduction to occur more quickly), or a specific type of cataract called a juvenile posterior subcapsular lenticular opacity

Treatment team

Treatment of neurofibromatosis requires a multidisciplinary team approach, with neurologists, ophthalmologists, otolaryngologists (ENTs), neurosurgeons, general surgeons, plastic surgeons, orthopedic surgeons, and dermatologists all collaborating. Depending on the kinds of challenges that the specific patient faces, other team members may include speech and language specialists, learning specialists, occupational therapists, and physical therapists.

Treatment

There is no known cure for either NF1 or NF2. Regular examinations are important in order to catch new developments early, such as the advent of high blood pressure, malignant transformation of a neurofibroma, or development of cataracts.

Treatment is purely supportive and depends on the specific manifestations of the disease in a given patient. For example, a patient with scoliosis may require bracing; patients with cataracts may require surgery; patients with auditory nerve tumors may require traditional scalpel surgery or gamma-knife surgery (also called stereotactic radiosurgery, this is a technique that allows a very focused, very high dose of radiation to be delivered to a carefully designated tissue location). Optic gliomas may be treated with radiation therapy. Any tumors that are impinging on nerves and causing symptoms or tumors that have undergone malignant transformation may require surgical removal, while tumors that are purely problematic from a cosmetic standpoint may be left alone.

Clinical trials

A variety of clinical trials are underway, including studies of several types of drugs such as drug R115777, tipifarnib, pirfenidone, and combination methotrexate/vinblastine therapy, each of which may be useful in shrinking tumors associated with neurofibromatosis. Information about these trials are available through the National Cancer Institute.

Prognosis

Even within the same family, the manifestations and severity of neurofibromatosis can differ widely.

Special concerns

Genetic counseling is crucial for families with a history of neurofibromatosis to help ascertain the risk of future offspring being born with neurofibromatosis.

Resources

BOOKS

Barkovich, A. James, and Ruben I. Kuzniecky. "Neurocutaneous Syndromes." Cecil Textbook of Medicine, edited by Lee Goldman. Philadelphia: W. B. Saunders Company, 2003.

Berg, Bruce O. "Chromosomal Abnormalities and Neurocutaneous Disorders>" Textbook of Clinical Neurology, edited by Christopher G. Goetz. Philadelphia: W. B. Saunders Company, 2003.

Haslam, Robert H. A. "Neurocutaneous Syndromes." Nelson Textbook of Pediatrics, edited by Richard E. Behrman, et al. Philadelphia: W. B. Saunders Company, 2004.

WEBSITES

National Institute of Neurological Disorders and Stroke (NINDS). Neurofibromatosis Fact Sheet. (April 27, 2004). http://www.ninds.nih.gov.

ORGANIZATIONS

National Cancer Institute (NCI). 9000 Rockville Pike, Bethesda, MD 20892. gillesan@exchange.nih.gov or prpl@mail.cc.nih.gov.

The National Neurofibromatosis Foundation, Inc. 95 Pine Street, 16th Floor, New York, NY 10005. (212) 344-NNFF (6633) or (800) 323-7938. nnff@nf.org. http://www.nf.org.


Rosalyn Carson-DeWitt, MD


Dental Dictionary: neurofibromatosis
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(nyōō′rōfī′brōmətō′sis)
n

(molluscum fibrosum, multiple neuroma, von Recklinghausen’s disease of skin), a disease characterized by multiple neurofibromas. Most frequently affects the skin but possibly involves the oral mucosa.

Children's Health Encyclopedia: Neurofibromatosis
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Definition

Neurofibromatosis (NF) is a genetic disease in which multiple soft tumors (neurofibromas) develop under the skin and throughout the nervous system. Various sized tumors may grow on the nerves in or leading away from the brain and spinal cord (peripheral nerves) and in the vascular system (veins and arteries) and other organ systems. There are two types of NF: NF-1, also called vonRecklinghausen NF, and NF-2, also called acoustic NF (sometimes bilateral acoustic NF or BAN). NF-1 is more common, representing 90 percent of all cases, while NF-2 is diagnosed in 10 percent of NF cases.

Description

Neural crest cells are primitive cells that are present as part of the nervous system during fetal development. These cells eventually turn into the following:

  • cells that form nerves throughout the brain, spinal cord, and body
  • cells that serve as coverings around the nerves throughout the body
  • pigment cells that provide color to body structures
  • meninges, the thin, membranous coverings of the brain and spinal cord
  • cells that ultimately develop into the bony structures of the head and neck

In both types of NF, a genetic defect causes these neural crest cells to develop abnormally, resulting in numerous tumors and malformations of the nerves, bones, and skin.

NF-1 affects nerves throughout the body, occurring as groups of soft, fibrous swellings that grow on nerves in the skin, brain, and spinal cord (central nervous system), muscles, and bone. Severe disfigurement can result from the development of these tumors as the disease progresses and bone deformities may occur as well.

NF-2 is a rare type of NF in which multiple tumors grow on the cranial (head) and spinal nerves and other growths can occur in the brain and spinal cord. Tumor growth (schwannoma) on the nerves to the ears (auditory nerves) is most characteristic of NF-2. Disfigurement does not occur although hearing and visual problems are typical.

Demographics

NF-1 is a common genetic disorder that occurs in about one of every 4,000 births worldwide. NF-2 is rare, occurring in one of every 40,000 births. Children with a family history of neurofibromatosis are at highest risk for having either form of the condition.

Causes and Symptoms

Both forms of neurofibromatosis are caused by a defective gene. NF-1 is due to a defect on chromosome 17; NF-2 results from a defect on chromosome 22. Both of these disorders are inherited in a dominant fashion, which means that anyone who receives just one defective gene will have the disease. However, a family pattern of NF is only evident for about half of all cases of NF. The other cases of NF occur due to a spontaneous mutation (a permanent change in the structure of a specific gene). Once such a spontaneous mutation has been established in an individual, however, it can then be passed on to any offspring. The chance of a person with NF passing on the NF gene to a child is 50 percent.

NF-1 has a number of possible signs and can be diagnosed if any two of the following are present:

  • The presence of coffee-colored spots. These are patches of tan or light brown skin, usually about 5 to 15 mm in diameter. Nearly all patients with NF-1 will display these spots.
  • Multiple freckles in the armpit or groin area.
  • Ninety percent of patients with NF-1 have tiny tumors called Lisch nodules in the iris (colored area) of the eye.
  • Soft tumors (neurofibromas) are the hallmark of NF-1. They occur under the skin, often located along nerves or within the gastrointestinal tract. Neurofibromas are small and rubbery, and the skin overlying them may be somewhat purple in color.
  • Skeletal deformities, such as a twisted spine (scoliosis), curved spine (humpback), or bowed legs.
  • Tumors along the optic nerve, causing vision disturbances in about 20 percent of those affected.
  • The presence of NF-1 in a child's parent or sibling.

Very high rates of speech impairment, learning disabilities, and attention deficit disorder occur in children with NF-1. Other complications include the development of a seizure disorder or the abnormal accumulation of fluid within the brain (hydrocephalus). A number of cancers are more common in individuals who have NF-1. These include various types of malignant brain tumors, as well as leukemia and cancerous tumors of certain muscles (rhabdomyosarcoma), the adrenal glands (pheochromocytoma), or the kidneys (Wilms' tumor).

Patients with NF-2 do not necessarily have the same characteristic skin symptoms that appear in NF-1. The characteristic symptoms of NF-2 are due to tumors along the acoustic nerve that result in nerve dysfunction and the loss of hearing. The tumor may also spread to neighboring nervous system structures, causing weakness of the muscles of the face, headache, dizziness, poor balance, and uncoordinated walking. Cloudy areas on the lens of the eye (cataracts) frequently develop at an unusually early age. As in NF-1, the chance of brain tumors developing is unusually high.

When to Call the Doctor

A history of either form of NF in the child's parent or sibling is reason to consult a physician. The presence of any of the symptoms associated with NF-1 or NF-2 should be investigated by a physician as well, particularly spots on the skin or small movable lumps under the skin and visual disturbances, memory loss, or difficulty maintaining balance. Hearing loss may be the first sign of NF-2 but can also be due to other unrelated conditions.

Diagnosis

Diagnosis is based on characteristic symptoms and physical examination. Diagnosis of NF-1 requires that at least two of the characteristic signs are present. Diagnosis of NF-2 requires the presence of either a nodule or mass (tumor) on the acoustic nerve or another distinctive nervous system tumor, which may only be identifiable through imaging studies. An important diagnostic clue for either NF-1 or NF-2 is the known presence of the disorder in a child's parent or sibling. Gene studies may be done to detect abnormalities on chromosomes 17 and 22.

Diagnosis of NF-1 will be confirmed by manipulation of the skin to reveal moveable, small, solid lumps (nodules) and the presence of coffee-colored spots on the skin of the trunk and pelvis. The spots may appear in childhood and typically become more noticeable in young adults. Two or more nodules and six or more discolored spots are usually definitive for a diagnosis of NF-1. Curvature of the spin (scoliosis) may be present, elevated blood pressure, and abnormalities in height, weight, and head size may also be noticed on physical examination.

Diagnosis of NF-2 also relies on manipulation of the skin to indicate the presence of nodules and evaluation of hearing and vision to determine any impairment.

X rays, CT scans, and MRI scans are performed to track the development/progression of tumors in the brain and along the nerves. Auditory evoked potential testing (the electric response evoked in the cerebral cortex by stimulation of the acoustic nerve) may be helpful to determine involvement of the acoustic nerve, and EEG (electroencephalogram, a record of electrical currents in the brain) may be needed for children who have possible seizures. As the disease progresses, hearing and vision are carefully monitored and imaging studies of the bones are frequently done to watch for the development of deformities.

Treatment

There is no standard treatment for either type of neurofibromatosis. To some extent, the symptoms of NF-1 and NF-2 can be treated individually. Skin tumors can be surgically removed. Some brain tumors and tumors along the nerves, can be surgically removed or treated with chemotherapeutic drugs or x-ray treatments (radiation therapy). Twisting or curving of the spine and bowed legs may be corrected to some degree by surgical treatment or the wearing of a special brace. Social adjustment problems are common among young children with physical deformities caused by the condition.

Prognosis

NF of either type is progressive, and the clinical outcome is not predictable. Prognosis varies depending on the types of tumors that develop. As tumors grow, they begin to destroy surrounding nerves and structures. Ultimately, this destruction can result in blindness, deafness, increasingly poor balance, and increasing difficulty with the coordination necessary for walking. Deformities of the bones and spine can also interfere with walking and other kinds of movement. When cancers develop as a result of NF, prognosis worsens according to the specific type of cancer. Successful surgical removal of neurofibromas has a survival rate of 50 to 90 percent.

Prevention

There is no known way to prevent NF cases that occur as a result of spontaneous change in the genes (mutation). New cases of inherited NF can be prevented with careful genetic counseling. Parents with NF can be encouraged to understand that each of his or her offspring has a 50 percent chance of also having NF. When a parent has NF, and the specific genetic defect causing the parent's disease has been identified, tests can be performed on the fetus (developing baby) during pregnancy. Procedures such as amniocentesis or chorionic villus sampling allow small amounts of the baby's cells to be removed for examination. The tissue can then be examined for the presence of the parent's genetic defect. Some families choose to use this information in order to prepare for the arrival of a child with a serious medical problem. Other families may choose not to continue the pregnancy.

Parental Concerns

Parents may worried about the development of deformities associated with NF-1. Social workers and psychologists can be consulted about possible counseling for children with the disease, helping them to cope with changes in their bodies that may be hard to accept. Hearing loss and visual disturbances associated with NF-2 are usually not reversible and specialists can be consulted about possible therapies to improve functioning in existing sight or hearing senses. Surgery to remove tumors may require the provision of educational information for both parents and children so that the procedure and possible complications are understood ahead of time.

Resources

Organizations

March of Dimes Birth Defects Foundation. Resource Center, 1275 Mamaroneck Ave., White Plains, NY 10605. Web site: www.modimes.org.

National Neurofibromatosis Foundation Inc. 95 Pine St., 16th Floor, New York, NY 10005. Web site: .

Web Sites

"Neurofibromatosis." MedlinePlus. Available online at www.nlm.nih.gov/medlineplus/neurofibromatosis.html (accessed October 12, 2004).

"Neurofibromatosis."fc Inc. Available online at www.rfinc.org/ (accessed October 12, 2004).

[Article by: L. Lee Culvert Rosalyn Carson-DeWitt, MD]


Wikipedia: Neurofibromatosis
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Neurofibromatosis
Classification and external resources

Back of an elderly woman with Neurofibromatosis.
ICD-10 Q85.0
ICD-9 237.7
ICD-O: 9540/0
eMedicine derm/287
MeSH D017253

Neurofibromatosis (commonly abbreviated NF) is a genetically-inherited disease in which the nerve tissue grows tumors (i.e., neurofibromas) that may be harmless or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes, endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body forming tumors and the melanocytes function abnormally resulting in disordered skin pigmentation.The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.[1]

Neurofibromatosis is autosomal dominant, which means that it affects males and females equally and is dominant (only one copy of the affected gene is needed to get the disorder). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. Disease severity in affected individuals, however, can vary (this is called variable expressivity). Moreover, in around half of cases there is no other affected family member because a new mutation has occurred.

Contents

Diagnostic Criteria

Neurofibromatosis type 1

Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2. The diagnosis of NF1 is made if any two of the following seven criteria are met:

  • Two or more neurofibromas on the skin or under the skin or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves); Neurofibromas are the subcutaneous lumps that are characteristic of the disease and increase in number with age.
  • Freckling of the groin or the axilla (arm pit).
  • Café au lait spots (pigmented, most often a shade of brown,[2] birthmarks). Six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
  • Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body (i.e. bones of the leg, potentially resulting in bowing of the legs)
  • Lisch nodules (hamartomas of iris), freckling in the iris.
  • Tumors on the optic nerve, also known as an optic glioma
  • A first-degree relative with a diagnosis of NF1
plexiform neurofibroma
Patient with multiple small cutaneous neurofibromas and a 'café au lait spot' (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions

Neurofibromatosis type 2

Neurofibromatosis type 2 - mutation of NF2 (Merlin) in chromosome 22q12

Schwannomatosis

Schwannomatosis - gene involved has yet to be identified

  1. Multiple Schwannomas occur.
  2. The Schwannomas develop on cranial, spinal and peripheral nerves.
  3. Chronic pain, and sometimes numbness, tingling and weakness.
  4. About 1/3 of patients have segmental Schwannomatosis, which means that the Schwannomas are limited to a single part of the body, such as an arm, a leg or the spine.
  5. Unlike the other forms of NF, the Schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with Schwannomatosis.
  6. Patients with Schwannomatosis do not have learning disabilities related to the disease.

One must keep in mind, however, that neurofibromatosis can't occur in or affect any of the organ systems, whether that entails simply compressing them (from tumor growth) or in fact altering the organs in some fundamental way. This disparity in the disease is one of many factors that makes it difficult to diagnose, and eventually find a prognosis for.

Genetics and Hereditability

NF-1 and NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.

Neurofibromatosis type 1 is due to mutation on chromosome 17q11.2 , the gene product being Neurofibromin ( a GTPase activating enzyme).[3]

Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein.

Both NF1 and NF2 are autosomal dominant disorders, meaning that only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF1 or NF2 and an unaffected parent will have a 50% chance of inheriting the disorder.

Complicating the question of heritability is the distinction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and specific nature of the symptoms may vary widely among family members with the disorder.[4] In the case of NF2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist (ibid).

Both NF1 and NF2 can also appear to be spontaneous mutation, with no family history. These cases account for about one half of neurofibromatosis cases (ibid).

Similar to polydactyly, although NF is a dominant mutation, it is not prevalent in society. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002). NF-2 is less common, having one case in 50,000-120,000 live births.[5]

Mechanism

Neurofibromatosis affects humans on a genetic level, meaning that it either destroys, or renders defective a specific gene. NF-1

  • The gene that NF-1 affects is large, on band 17q11.2. It encodes for a protein called neurofibromin, otherwise known as "the tumor suppressor" protein. This protein is a negative regulator of the Ras kinase pathway[6]. Neurofibromatosis alters or weakens this protein, allowing rapid, radical growth of cells all over the body, especially around the nervous system. This leads to the normal symptoms for neurofibromatosis - clumpings of these tumors, called neurofibromas and schwannomas.
  • Less is known about the NF-2 linked gene. However, it is on band 22q1 and codes for the protein Merlin.

Effects

People with Neurofibromatosis can be affected in many different ways.

  • There is a high incidence of learning disabilities in people with NF. It is believed that at least 50% of people with NF have learning disabilities of some type.
  • increased chances of development of petit mal epilepsy (a Partial absence seizure disorder)
  • The tumors that occur can grow anywhere a nerve is present. This means that:
    • They can grow in places that are very visible.
    • The tumors can also grow in places that can cause other medical issues that may require them to be removed for the patient's safety.
  • Affected individuals may need multiple surgeries, depending on where the tumors are located.

Treatment

Because there is no cure for the condition itself, the only therapy for those people with neurofibromatosis is a program of treatment by a team of specialists to manage symptoms or complications. Surgery may be needed when the tumors compress organs or other structures. Less than 10% of people with neurofibromatosis develop cancerous growths; in these cases, chemotherapy may be successful. A new clinical trial at NIH uses a drug called Pegintron. There are some accounts of cures in foreign countries. Though nothing has proved by the American FDA to be effective, alternative resources would say otherwise. Some people may find something in the herbal remedies that can slow down the growth of these tumors. [7]

History

Neurofibromatosis was first described in 1882 by the German pathologist Friedrich Daniel von Recklinghausen. He wrote on it and published it in Hämochromatose, Tageblatt der Naturforschenden Versammlung.[8]

Joseph Merrick, the Elephant Man, was once considered to have been affected with either elephantiasis or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome. This however has given rise to the common misconception that Neurofibromatosis and "Elephant Man Disease" are one and the same.

Related disorders

Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Neurofibromatosis is also associated with pheochromocytoma.

Neurofibromatosis in Pop Culture

In the film The Hills Have Eyes, a member of the Jupiter family, named Cyst, suffers from the condition, which is where he earns his name.

In the television series Dallas, the inherited neurofibromatosis of the Barnes family is a driving plot device, although the portrayal of the condition does leave something to be desired in terms of scientific fact.

The disease is also a pivotal plot element in the Icelandic film Mýrin (Jar City) and Tainted Blood, the novel on which it was based.

Gillian Anderson, who played Scully on the X-Files, is a spokesperson and helps in the raising of money for neurofibromatosis, because her brother suffers from the disease.

Munya "Mony" Yassir, who was diagnosed with Neurofibromatosis at 18 months, appeared in nine episodes of Degrassi: The Next Generation, in season 2.

Neurofibromatosis is also mentioned in an episode of House as a possible diagnosis.

Notable Cases

In November 2006, there was an hour-long documentary on the British television network Channel 4 about Facing the World, an organization that helps children with severe facial disfigurements in developing countries. One of the children featured on the documentary was Arianto, an Indonesian boy who suffered from a severe form of neurofibroma resulting in hemifacial giganticism.

Also, in that year, another documentary on BBC2 (edge of life) featured a Neurofibromatosis case. On that documentary was a young teenager, Amit Ghose, who had decided for himself to have corrective surgery at the age of 14. In this case the neurofibroma occurred on the face resulting in the loss of sight in one eye and having to have it removed. This was a case NF Type2 resulting in the disfigurement of the one side of the face leaving the other side completely normal.

In January 2008, 32-year-old Huang Chuncai of China underwent a second operation to remove another 4.5 kg (9.9 lb) of tumor from his face. A previous operation removed 15 kg (33 lb) from what was originally a 23 kg (55.7 lb) tumor.[9][10]

In March 2007 the treatment of 30-year-old neurofibromatosis victim Pascal Coler of France ended after he had received what his doctors call the world's first successful full face transplant.[11][12]

See also

Search Wikinews Wikinews has related news: Interview with Reggie Bibbs on his life with neurofibromatosis

References

  1. ^ http://www.merck.com/mmhe/sec06/ch088/ch088d.html Merck Manual Home Edition, "Neurofibromatosis"
  2. ^ ^ http://emedicine.medscape.com/article/911900-overview
  3. ^ Fauci, et al. Harrison's Principle Small Textof Internal Medicine 16th Ed. p 2453
  4. ^ Korf BR, Rubenstein AE (2005). Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. 
  5. ^ Jennifer R. Kam, Jan. 2007
  6. ^ Feldkamp MM, Angelov L, Guha A (1999) Neurofibromatosis Type 1 Peripheral Nerve Tumors: Aberrant Activation of the Ras Pathway. Surgical Neurology 51:211-218
  7. ^ Neurofibromatosis. JAMA patient page, Vol. 300 No. 3, July 16, 2008.
  8. ^ doctor/1174 at Who Named It?
  9. ^ "ABC News: 50-Pound Face Tumor: One Man's Nightmare". http://abcnews.go.com/Health/story?id=4116455&page=1. Retrieved 2008-01-23. 
  10. ^ Radford, S. (2008-01-11). Chinese man has surgery for 10 kg face tumour. Retrieved on 2008-01-29 from http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2008/01/09/whuang109.xml.
  11. ^ Watt, Nick (2008-03-25). "World's First Full Face Transplant Hailed". abcnews.go.com. http://abcnews.go.com/Health/story?id=4511813&page=1. Retrieved 2008-03-25. 
  12. ^ Franklin, Katie (2008-03-25). "Man has first full-face transplant". telegraph.co.uk. http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2008/03/23/wface123.xml. Retrieved 2008-03-25. 

External links

the shadows and into the light of the world by encouraging the people they meet to ask about neurofibromatosis and to raise awareness of the disease throughout the world and United States)

  • Home Page(a non-profit organization providing patient information, awareness and support of Neurofibromatosis in the world)
v • d • e
Nervous tissue tumors/nervous system neoplasm/Neuroectodermal tumor (ICD-O 9350-9589) (C70-C72/D32-D33, 191-192/225)
Endocrine/
sellar (9350-9379)
CNS (9380-9539)
Multiple/unknown
Mature neuron
Meningiomas (meninges)
PNS: NST (9540-9579)
note: not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain
central nervous system navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc
peripheral nervous system navs: anat/histo/physio/dev, noncongen PNS somatic/autonomic/congen/neoplasia, symptoms+signs/eponymous, proc
v • d • e
Phakomatoses (Q85, 759.5-759.6)
Neurofibromatosis
Angiomatosis
Hamartoma
Other

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Medical Encyclopedia. © 2006 through a partnership of Answers Corporation. All rights reserved.  Read more
Dictionary. The American Heritage® Dictionary of the English Language, Fourth Edition Copyright © 2007, 2000 by Houghton Mifflin Company. Updated in 2009. Published by Houghton Mifflin Company. All rights reserved.  Read more
Neurological Disorder. Gale Encyclopedia of Neurological Disorders. Copyright © 2005 by The Gale Group, Inc. All rights reserved.  Read more
Dental Dictionary. Mosby's Dental Dictionary. Copyright © 2004 by Elsevier, Inc. All rights reserved.  Read more
Children's Health Encyclopedia. © 2006 through a partnership of Answers Corporation. All rights reserved.  Read more
Veterinary Dictionary. Saunders Comprehensive Veterinary Dictionary 3rd Edition. Copyright © 2007 by D.C. Blood, V.P. Studdert and C.C. Gay, Elsevier. All rights reserved.  Read more
Wikipedia. This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article "Neurofibromatosis".  Read more