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Encyclopedia > Neurofibromatosis
Neurofibromatosis
Classification & external resources
ICD-10 Q85.0
ICD-9 237.7
ICD-O: 9540/0
MeSH D017253

Neurofibromatosis is an autosomal dominant genetic disorder. It encompasses a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. The tumors can grow anywhere on or in the body. Incidence is 1:3,000. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... It has been suggested that this article or section be merged into Dominance relationship. ... A genetic disorder is a disease caused by abnormalities in genes or chromosomes. ... The incidence of disease is defined as the number of new cases of disease occurring in a population during a defined time interval. ...

Contents

History

Neurofibromatosis was discovered in 1882 by Von Recklinghausen. He wrote on it and published it in Hämochromatose, Tageblatt der Naturforschenden Versammlung


Joseph Merrick, the Elephant Man, was once considered to have been afflicted with either elephantiasis or neurofibromatosis type I. However, it is now generally believed that Merrick suffered from the very rare Proteus syndrome or perhaps a combination of the two conditions. For the Jamaican missionary to Cameroon, see Joseph Merrick (missionary) Joseph Carey Merrick (5 August 1862–11 April 1890), known as The Elephant Man, gained the sympathy of Victorian era Britain because of the extreme deformity of his body. ... The Elephant Man is a 1980 biopic loosely based on the story of the 19th century British deformed celebrity, Joseph Merrick (called John Merrick in the film). ... Elephantiasis (Greek ελεφαντίασις, from ελέφαντας, the elephant) is a disease that is characterized by the thickening of the skin and underlying tissues, especially in the legs and genitals. ... Proteus Syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors on over half the body. ...


Types

Apart from the common form, there are two rarer forms and several even rarer forms:

  • Schwannomatosis is a rare form that is clinically and genetically distinct from types I and II. Multiple Schwannomas (rather than Neurofibromas) occur, and about one-third of patients have these tumors in only one part of the body. Incidence is 1:40,000. The vestibular nerve is spared. Pain is the primary symptom, although numbness, tingling and weakness can also occur. Schwannomas are always benign.

Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, is a common inherited disease. ... In 1882 Frederich Daniel von Recklinghausen released a monograph which reviewed previous literature and characterized the tumors of Neurofibromatosis 1 or NF-1 as neurofibromas, consisting of an intense commingling of nerve cells and fibrous tissue ... The incidence of disease is defined as the number of new cases of disease occurring in a population during a defined time interval. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... The incidence of disease is defined as the number of new cases of disease occurring in a population during a defined time interval. ... Schwannomatosis is one form of a genetic disorder called Neurofibromatosis (NF) that has only recently been recognized. ... Schwannoma is a kind of tumor originating from the Schwann cells. ... Schwannoma is a kind of tumor originating from the Schwann cells. ... The incidence of disease is defined as the number of new cases of disease occurring in a population during a defined time interval. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

Symptoms

Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2

plexiform neurofibroma
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
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 - mutation of merlin chromosome 22q12 Neurofibromas are moderately firm, benign, encapsulated, slow-growing tumors of the nervous system arising from the supporting cells (Schwann cells) of peripheral nerves. ... Predisposition to freckles is genetic and is related to the presence of the MC1R gene variant. ... The groin is the crease at the junction of the torso with the legs and the adjacent region that includes the external genitals. ... The Underarm (or axilla) is the area on the human body directly under the joint where the arm connects to the shoulder. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ... Look up Benign in Wiktionary, the free dictionary. ... In medicine, malignant is a clinical term that means to be severe and become progressively worse, as in malignant hypertension. ... Café au lait spots or cafe-au-lait spots (CAL) are pigmented birthmarks. ... Genu varum A deformity marked by medial angulation of the leg in relation to the thigh; an outward bowing of the legs. ... A Lisch nodule is a hamartoma (a type of benign tumor) affecting the iris. ... A hamartoma is a common benign tumor in an organ composed of tissue elements normally found at that site but that are growing in a disorganized mass. ... In anatomy, the iris (plural irises or irides) is the most visible part of the eye of vertebrates, including humans. ... This article is about the anatomical structure. ... Image File history File linksMetadata Download high resolution version (2592x1944, 1136 KB) Summary self taken, permission to upload and use in public domain granted by subject Licensing File links The following pages link to this file: Neurofibromatosis Metadata This file contains additional information, probably added from the digital camera or... Image File history File linksMetadata Download high resolution version (2592x1944, 1136 KB) Summary self taken, permission to upload and use in public domain granted by subject Licensing File links The following pages link to this file: Neurofibromatosis Metadata This file contains additional information, probably added from the digital camera or... Image File history File links Size of this preview: 800 × 475 pixelsFull resolution (872 × 518 pixel, file size: 104 KB, MIME type: image/jpeg) File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File links Size of this preview: 800 × 475 pixelsFull resolution (872 × 518 pixel, file size: 104 KB, MIME type: image/jpeg) File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ...

Schwannomatosis - gene involved has yet to be identified Bilateralism is a term referring to trade or political relations between two states. ... Tumor or tumour literally means swelling, and is sometimes still used with that meaning. ... Acoustic neuroma (or Vestibular Schwannoma) is a benign primary intracranial tumor of the myelin forming cells called Schwann cells (Schwannoma) of the 8th cranial nerve --- also known as the acoustic nerve, (or more properly the vestibulocochlear nerve). ... The vestibulocochlear nerve (also known as the auditory or acoustic nerve) is the eighth of twelve cranial nerves, and is responsible for transmitting sound and equilibrium (balance) information from the inner ear to the brain. ... Hearing impairment or deafness is decreased or absent ability to perceive auditory information. ... Acoustic neuroma (or Vestibular Schwannoma) is a benign primary intracranial tumor of the myelin forming cells called Schwann cells (Schwannoma) of the 8th cranial nerve --- also known as the acoustic nerve, (or more properly the vestibulocochlear nerve). ... A headache (cephalalgia in medical terminology) is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ... Balance is the result of a number of body systems working together. ... For other uses, see Vertigo. ... Facial weakness is a medical sign associated with a variety of medical conditions. ... This article does not cite any references or sources. ... A brain tumor is any mass created by an abnormal and uncontrolled growth of cells either found in the brain (neurons, glial cells, epithelial cells, myelin producing cells, etc. ... This article discusses the way the word deaf is used and how deafness is perceived by hearing and Deaf communities. ... Tinnitus (IPA pronunciation: or ,[1] from the Latin word for ringing[2]) is the perception of sound in the human ear in the absence of corresponding external sound(s). ...

  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 forums 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.

Genetics and Hereditability

NF-1 and NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.
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).[1] Image File history File links Autosomal_Dominant_Pedigree_Chart. ... Image File history File links Autosomal_Dominant_Pedigree_Chart. ... Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis type II (a. ... Neurofibromatosis Type II (or MISME Syndrome, for Multiple Inherited Schwannomas, Meningiomas, and Ependymomas) is an inherited disease. ... It has been suggested that this article or section be merged into Dominance relationship. ... It has been suggested that mutant be merged into this article or section. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... Neurofibromin can refer to one of two different proteins: Neurofibromin 1 Neurofibromin 2 Category: ... GTPases are a large family of enzymes that can bind and hydrolyze GTP. The GTP binding and hydrolysis takes place in the highly conserved G domain common to all GTPases. ...


Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein. It has been suggested that mutant be merged into this article or section. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... Merlin is a cytoskeletal protein. ... The cytoskeleton is a cellular scaffolding or skeleton contained, as all other organelles, within the cytoplasm. ...


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. It has been suggested that this article or section be merged into Dominance relationship. ...


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 (Korf and Rubenstein 2005). 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 spontaneously through random mutation, with no family history. These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).


Family

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. Phakomatoses (or neurocutaneous syndromes) are diseases that are caused by neurological disorders, and primarily result in lesions on the skin and the retina. ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... // Sturge-Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is an extremely rare congenital neurological and skin disorder. ... Von Hippel-Lindau disease (VHL) is a rare inherited genetic condition involving the abnormal growth of tumors in parts of the body which are particularly rich in blood supply. ...


Neurofibromatosis in Pop Culture

In the television series Dallas, the inherited neurofibromatosis of the Barnes family is a driving plot device, though the portrayal of the condition does leave something to be desired in terms of scientific fact. The Southfork Ranch, home of the Ewing family The original cast of Dallas. ...


It has been mentioned as a possible diagnosis many times in the Fox drama House. House, also known as House, M.D., is a critically-acclaimed American medical drama television series created by David Shore and executive produced by Shore and film director Bryan Singer. ...


References

  1. ^ Fauci, et al Harrison's Principle of Internal Medicine 16th Ed. p 2453
  • Korf, Bruce E. and Allan E. Rubenstein. 2005. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals.

External links


  Results from FactBites:
 
Neurofibromatosis (1395 words)
Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities.
Neurofibromatosis is a neurocutaneous syndrome, it's passed down through the parents' genes, and it affects the brain, spinal cord, nerves, and skin.
Neurofibromatosis can also be the result of a spontaneous change (mutation) in the genetic material of the sperm or egg at conception in families with no previous history of the disease.
  More results at FactBites »

 
 

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