what is nerofibromotois?

Question

some fatty growths on body, also know as
VonRecklin Hausher

Answer 1

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. 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. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old. NF2 is less common. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for bilateral eighth nerve tumors and similar signs and symptoms in a parent, sibling, or child. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.

Answer 2

Neurofibromatosis-1 is an inherited disorder characterized by formation of neurofibromas (tumors involving nerve tissue) in the skin, subcutaneous tissue, cranial nerves, and spinal root nerves.

http://www.nlm.nih.gov/medlineplus/ency/article/000847.htm

What are the neurofibromatoses?



The neurofibromatoses are a group of three genetically distinct but related disorders of the nervous system that cause tumors to grow around the nerves. Tumors begin in the cells that make up the myelin sheath, a thin membrane that envelops and protects nerve fibers, and often spread into adjacent areas. The type of tumor that develops depends on its location in the body and the kind of cells involved. The most common tumors are neurofibromas, which develop in the tissue surrounding peripheral nerves. Most tumors are non-cancerous, although occasionally they become cancerous over time.

Why these tumors occur still isn’t completely known, but it appears to be mainly related to mutations in genes that play key roles in suppressing tumor growth in the nervous system. These mutations keep the genes – identified as NF1 and NF2 – from making specific proteins that control cell production. Without these proteins, cells multiply out of control and form tumors.

An estimated 100,000 Americans have a neurofibromatosis (the singular form of neurofibromatoses) disorder, which occurs in both sexes and in all races and ethnic groups. Scientists have classified the disorders as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and a type that was once considered to be a variation of NF2 but is now called schwannomatosis.

http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibromatosis.htm#57283162

Answer 3

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




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.

Answer 4

There are two major forms and one newly discovered form:

Neurofibromatosis type I (was known as Von Recklinghausen disease after Friedrich Daniel von Recklinghausen). Incidence is 1:3000.
Neurofibromatosis type II (or "MISME Syndrome"). Incidence is 1:40,000.
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. The vestibular nerve is spared. Pain is the primary symptom, although numbness, tingling and weakness can also occur.
Six other, extremely rare, forms are also recognized:
OMIM 162210
OMIM 162220
OMIM 162240
OMIM 162260
OMIM 162270
OMIM 601321

Symptoms
Neurofibromatosis type 1 - mutation on chromosome 17

multiple neurofibromas on the skin and under the skin
various other skin phenomena such as freckling of the groin and the arm pit
a predisposition to particular tumors (both benign and malignant)
the presence of 6 or more Café au lait spots (pigmented birthmarks) may suggest the presence of this condition
skeletal abnormalities such as scoliosis or bowing of the legs might occur
lisch nodules (iris nevi)- a hamartoma of iris
tumor on the optic nerve
a predisposition for dysthymia, mood disorders and certain learning disabilities
a predisposition for tinnitus and an awareness of Visual snow or certain other "entoptic phenomenon"

plexiform neurofibromaNeurofibromatosis type 2 - mutation on chromosome 22

bilateral tumors, acoustic neuromas on the vestibulocochlear nerve
the hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty
the tumors may cause:
headache
balance problems, and Vertigo
facial weakness/paralysis
patients with NF2 may also develop other brain tumors, as well as spinal tumors
Deafness and Tinnitus

Genetics and Hereditability
Neurofibromatosis type 1 is due to mutation on chromosome 17q , the gene product being Neurofibromin ( a GTPase activating enzyme).

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 distiction 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


History

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.

Answer 5

The only thing I can reconcile from what you have typed is "neurofibromatosis." This is a type of tumor that grows usually in brain tissue. It is not usually malignant (not cancerous). This is a genetic disease that affects all people.

Answer 6

it is spelled neurofibromatosis. an inherited condition that caused multiple benign tumors of the skin and other areas of the body. a serious condition in some. cosmetic in others. read up!

www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm

Answer 7

it's a nerve disease that causes tumors, usually non-cancerous, inside and outside the body. it's hereditary also.

http://en.wikipedia.org/wiki/Neurofibromatosis

Answer 8

dictionary.com

Answer 9

U mean.. neurofibromatois?