NEUROFIBROMATOSIS

Neurofibromatosis, also known as von Recklinghausen's disease, and is a hereditary (genetic) disorder of overgrowth and abnormal growth of embryonic neural components within the body. Neurofibromatosis, znan tudi kot von Recklinghausen bolezni, in je dedna (genetska), motnje prekomerno in nenormalno rast embrionalnih neural komponente znotraj telesa.

Appearance of Skin and Signs of Neurofibromatosis Videz kože in Znaki Neurofibromatosis

The patient presents with light-dark brown patches called cafe-au-lait spots. Bolnika predstavlja s svetlo-temno rjave lise, imenovano cafe-au-lait vložki. These spots are usually greater than 1.5 cm in adults and there should be more than 6 of them. Ti vložki so ponavadi večji od 1,5 cm pri odraslih in bi moralo biti več kot 6 izmed njih. In children, less than 5, these patches are smaller, greater than 0.5 cm and more than 5 are usually present. Pri otrocih, manj kot 5, je te popravke, so manjše, večje od 0,5 cm in več kot 5 so običajno prisotni.

Epidemiology and Causes of Neurofibromatosis Epidemiologije in vzrokov Neurofibromatosis

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural/nerve cell tissues. V neurofibromatoses so genske bolezni živčnega sistema, ki primarno vplivajo na razvoj in rast neural / živčnih celic, tkiv. These disorders cause tumors to grow on nerves. Ta obolenja povzročajo tumorjev, ki rastejo na živce. In addition, neurofibromatoses produce numerous skin changes, as well as bone deformities. Poleg tega neurofibromatoses proizvajajo številne spremembe na koži, kot tudi kosti okvar. These signs are essential, as they can help aid in the diagnosis of a patient with neurofibromatoses early on. Ti znaki so bistvenega pomena, saj lahko pomaga pomoč pri diagnozi bolnika z neurofibromatoses že na začetku. These diseases are found in about 0.3% of the population. Te bolezni se ugotovi, da so pri približno 0,3% prebivalstva. These diseases are a genetic disease - mainly inherited from your parents. Te bolezni so v genetskih bolezni - v glavnem podedovana od tvojih staršev. However, even though many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through a mutational event, which changes a persons genetic material, and affects their genes. Kljub temu, da veliko prizadetih oseb podedovali motnje, med 30 in 50 odstotkov novih primerov nastane spontano skozi mutacijskih dogodek, zaradi katerih sprememb v oseb genskega materiala, ter vpliva na njihovo genov. Genes subsequently turn into proteins that are the active components in the body and may cause disease if formed abnormally. Genov, nato zavijte na beljakovine, ki so aktivne komponente v telesu in lahko povzročijo bolezen, če je oblikovana neobičajno. Once this change has taken place, the mutant gene can be passed on to the patients children, as the mutation has affected the patients germ cells. Ko te spremembe je prišlo, mutant gena mogoče prenesti na otroke, je pri bolnikih, kot mutacije prizadetih bolnikov je zarodnih celic. This occurs because this disease usually presents when a person is born, and therefore, the mutation has propagated throught the cells of their body, including their germ cells, which form either spermatocytes in a male or ova (eggs) in a female. To se zgodi zato, ker je ta bolezen predstavlja običajno, ko je oseba rojena, in zato je mutacija je razmnožen mislil, da se celice svoje telo, vključno z njihovimi zarodnih celic, ki tvorijo bodisi spermatociti v moškega ali jajčnih celic (jajca) v žensko.

Because neurofibromatoses are numerous, scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Ker neurofibromatoses so številni znanstveniki so razvrščene kot so motnje neurofibromatosis tipa 1 (NF1) in neurofibromatosis tipa 2 (NF2). NF1 is the more common type of the neurofibromatoses. NF1 je bolj pogosti tip je 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. V diagnosticiranje NF1, zdravnik zgleda za spremembe na koži videz, tumorske celice, ali kosti nepravilnostmi, hujšimi poškodbami, in / ali eden od staršev, brat ali otrok s NF1. Symptoms of NF1, particularly those on the skin, are often seen at birth or during infancy. Simptomi NF1, zlasti tistih, ki na koži, so pogosto opazili ob rojstvu ali v povojih. The latest that skin changes are seen, is almost always by the time a child is about 10 years old. Najnovejšo, da so opazili kožne spremembe, ki ga je skoraj vedno je čas za otroka je približno 10 let. NF2 is less common. NF2 je manj pogosti. NF2 is characterized by tumors of the eighth cranial nerve on both sides of the body. NF2 je značilna tumorjev osmi lobanjsko živci na obeh straneh telesa. Cranial nerve eight is essential for hearing, it is the acoustic nerve that goes to the ear and allows for hearing. Lobanjsko živčnih osem je bistvenega pomena za zaslišanje, je akustični živec, ki gre v uho in omogoča, da za zaslišanje. In addition, it is the nerve that allows for the vestibular functions of the body, such as balance and position senses. Poleg tega je na živec, ki omogoča, da za vestibularnem telesne funkcije, kot sta bilanca in položaj čutil.

It therefore has severe consequences, if this nerve is affected. Zato ima hude posledice, če to ne vpliva na živec. These tumors can also cause pressure that can damage neighboring nerves, including other cranial nerves, such as the ones that can cause tongue sensation and motor/muscle contractions to the face. Teh tumorjev lahko povzroči tudi pritisk, ki lahko poškoduje sosednjih živcev, vključno z drugimi lobanjsko živcev, kot so tisti, ki lahko povzroči občutek jezik in motorski / mišične kontrakcije na obrazu. To determine whether an individual has NF2, a physician will inspect the paitnet and do a head and neck exam, especially looking for bilateral eighth nerve tumors, which can be done through a CT scan or through a clinical examination with tunning forks, numerous manouverse to test balance and gait and hearing tests. Če želite ugotoviti, ali je posameznik NF2, zdravnik lahko preveri paitnet in ne glave in vratu izpit, še posebej iščejo dvostranske osmega živca tumorjev, ki se lahko naredi s pomočjo slikanje CT ali preko klinični pregled s tunning vilice, da številne manouverse test hoje in ravnotežja in sluha testov. Similar signs and symptoms in a parent, sibling, or child are of great concern and should always be presented to a physician. Podobnih znakov in simptomov v matično, brat, ali otrok vzbujajo veliko skrb in morajo biti vedno predloženo zdravnika. Affected individuals may notice hearing loss as early as the teen years. Prizadetih posameznikov morda opazili izgubo sluha tako zgodaj, kot je puberteta let. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Drugi zgodnji simptomi lahko vključujejo tinitus (zvonenje hrup v ušesih) in slabo ravnotežje. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur. Glavobol, obrazne bolečine, ali odrevenelost obraza, ki jih povzroči pritisk v tumorske celice, se lahko pojavi tudi. Neurofibromatosis is also associated with many other diseases, such as hypertension from renal artety stenosis, scoliosis of the back, bone cysts and developmental delay. Neurofibromatosis je povezano tudi z mnogimi drugimi boleznimi, kot so zvišan krvni tlak s stenozo ledvične artety, skolioze za nazaj, ciste kosti in razvojne odlašanja. MOST IMPORTANTLY, these disorders are associated with a high malignant potential, and can lead to astrocytoma, acoustic neuroma, neurofibrosarcoma. Najpomembneje je, da te motnje so povezane z visoko potencialno maligne, in lahko privedejo do astrocytoma, akustična neuroma, neurofibrosarcoma. It is therefore essential that these paitens be followed very closely by a physician or numerous specialists. Zato je nujno, da ti paitens jih je treba upoštevati zelo tesno z zdravnikom ali s številnimi strokovnjaki.

Neurofibromatosis Treatments Neurofibromatosis Obdelave

Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Zdravljenja za obe NF1 in NF2 so trenutno za obvladovanje simptomov. Complete cure rates are not possible, as these are inherited genetic diseases, and affect every cell of an individual. Complete tečajev ozdravitev ni mogoča, kot so dedne genetske bolezni in vplivajo na vsako posamezno celico. Gene therapy may hold promise in the future, however, current trials have not produced the results that were much expected. Genskim zdravljenjem, ima lahko obetajo v prihodnosti, vendar pa sedanja sojenja niso prinesli rezultatov, ki so veliko pričakovali. To alleviate symptoms, surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. Za lajšanje simptomov, lahko pomaga kirurški poseg nekaterih NF1 malformacije in odstranite kosti boleče ali disfiguring tumorske celice, vendar pa obstaja možnost, da tumori nazaj in bi lahko rasla v večjem številu.