Momma yensua tebea bi a ɛntaa nsi a ɛka wo nnompe ne wo honam ani nyinaa ho ade? (Maffucci Nyarewa) .

So woate yare bi a ɛyɛ nwonwa a ɛde ɔhaw ba wo nnompe so mpofirim, na ɛtɔ mmere bi a wo honam ani hwɛbea ho asɛm pɛn? Ebia woahyɛ biribi te sɛ dompe bi a epue fi wo nsa anaa wo nan mu, anaasɛ nsensanee kɔkɔɔ anaa kɔkɔɔ wɔ wo honam ani. Ɛno ne nea yɛbɛka ho asɛm nnɛ, tebea a ɛyɛ den kakra, na ɛntaa nsi koraa. Wɔfrɛ no `(Maffucci Syndrome)`. Mma ɛnhaw wo, yɛbɛka ho asɛm tiawa, wɔ ɔkwan a wobɛte ase so.

Enti, dɛn ne Maffucci Syndrome yi?

Sɛ yɛbɛka no tiawa a, Maffucci Syndrome yɛ tebea a ɛntaa nsi koraa a ɛka wo nnompe ne wo honam ani. Ɛfa nneɛma atitiriw abiɛsa ho:

1. Nnompe nyin dodo wɔ wo nnompe mu. Saa ntini yi yɛ ntini a ɛyɛ den na ɛyɛ mmerɛw a ɛkata mmeae te sɛ wo nkwaa so. Sɛ eyinom nyin yɛ akisikuru wɔ wo nnompe mu a, yɛfrɛ no `enchondromas`. Eyinom nyɛ kokoram (benign), a ɛkyerɛ sɛ ɛnyɛ nea asiane wom mfiase no. Nanso, saa `enchondromas` yi ɔhaha pii, anaa mpempem pii mpo betumi anya nkɔso.

2. Saa `(enchondromas)` yi de nnompe mu dɛmdi ba. Wo de susuw ho hwɛ, sɛ biribi nyin wɔ dompe bi mu a ɛho nhia a, saa dompe no nsusuwii sesa, ɛnte saa? Saa na ɛte. Nneɛma te sɛ akwaa a ɛyɛ tiaa, a ɛtrɛw, ne nea ɛpaapae betumi aba.

3. Hemangiomas yɛ akuru a ɛte sɛ mogya ntini a ɛnyɛ ne kwan so a ayɛ tan wɔ honam ani. Eyinom betumi ayɛ kɔkɔɔ, bruu, anaa kɔkɔɔ.

Saa ntini a enyin yi a wɔfrɛ no enchondromas yi taa wɔ wo nsateaa ne wo nansoaa nnompe mu. Nanso, wobetumi aka mmeae a edidi so yi nso:

• Akode a wɔde yɛ adwuma
• Nan
• Ribs
• Ti nhwi
• Vertebrae (akyi berɛmo) .

Nea ɛho hia no, mfiase no, saa enchondromas yi nyɛ kokoram (ɛnyɛ bɔne), nanso ɛtɔ mmere bi a ebetumi abɛyɛ nea ɛyɛ hu (ɛnyɛ bɔne). Nnipa dodow bi a ɛho hia a wɔwɔ Maffucci syndrome (ɛkɔ 50% sɛnea nhwehwɛmu ahorow bi kyerɛ) wɔ asiane kɛse mu sɛ wobenya nnompe mu kokoram bi a wɔfrɛ no chondrosarcoma, a efi ase wɔ ntini mu nkwammoaa mu. Wɔn nso wɔ asiane kɛse mu sɛ wobenya kokoram ahorow afoforo.

Maffucci Syndrome abu so dɛn?

Nokwarem no, eyi yɛ tebea a ɛntaa nsi koraa. Nnipa ɔhaha kakraa bi pɛ na wɔbɔ ho amanneɛ wɔ aduruyɛ ho kyerɛwtohɔ mu wɔ wiase nyinaa, enti sɛ woante ho asɛm da a, ɛnyɛ nwonwa.

Dɛn ne Maffucci Syndrome ho sɛnkyerɛnne ahorow?

Maffucci yare no ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho. Ebia nnipa binom benya yare no ho sɛnkyerɛnne a emu nyɛ den koraa, bere a afoforo nso betumi anya yare no ho sɛnkyerɛnne a emu yɛ den kɛse. Saa sɛnkyerɛnne ahorow yi betumi aba wɔ awo mu, anaasɛ ebetumi afi ase ada adi wɔ mmofraase.

Nsɛnkyerɛnne titiriw no fi saa cartilage tumors a yɛkaa ho asɛm a wɔfrɛ no ``enchondromas.'' Ebetumi de nneɛma te sɛ:

• Nnompe mu yaw
• Nnompe a ɛpaapae – Dompe betumi abubu mpo bere a ahwe ase ketewaa bi.
• Nsa anaa anan a wɔakotow
• Nnompe a ɛbɔ – pue sɛ akuru.
• Akyi berɛmo a ɛyɛ kurukuruwa – ɛte sɛ scoliosis.
• Osteolysis ( nnompe a ɛpaapae ) .
• Ɔyɛ tiaa
• Nsa anaa nan a ɛnteɛ – biako da adi sɛ ɛware anaa ɛyɛ tiaa sen biako.

Mogya ntini mu akisikuru a wɔfrɛ no hemangiomas betumi de sɛnkyerɛnne ahorow te sɛ:

• Mogya a ɛtwetwe
• Lymphangiomas – Eyinom te sɛ akuru a lymph nsu ahyɛ mu ma.
• Akuru kɔkɔɔ, kɔkɔɔ, anaa bruu a ɛwɔ honam ani (hemangiomas) – wɔtaa hu wɔ nsa so. Bere kɔ so no, eyinom betumi ayɛ den na ayɛ kurukuruwa.
• Ntini a ennyaa nkɔso – wɔ beae a ɛka no.

Dɛn na ɛde Maffucci Syndrome ba?

Maffucci syndrome yɛ awosu mu yare. Eyi kyerɛ sɛ nsakrae (mutation) a ɛba yɛn awosu mu nkwaadɔm mu na ɛde ba. Titiriw no, ɛnam nsakrae a ɛba kwa wɔ awosu mu nkwaadɔm abien a wɔfrɛ no `IDH1` (a ɛtaa ba) anaa `IDH2` (ɛntaa mma) no mu biako mu na ɛba. Nhwehwɛmufo gye di sɛ saa awosu mu nsakrae yi ba bere a abofra da so wɔ awotwaa mu, kyerɛ sɛ, ansa na wɔrewo no. Saa `IDH` awosu mu nkwaadɔm yi boa ma wɔyɛ `(enzymes)` a ɛho hia ma nkwammoaa a ɛwɔ yɛn nipadua mu no dwumadi. Nanso, nyansahufo nnya nhuu abusuabɔ pɔtee a ɛda saa `(enzymes)` yi ne Maffucci syndrome ntam.

Nea ɛho hia paa ne sɛ eyi nyɛ awosu mu yare. Ɛne sɛ, ɛnyɛ biribi a wobetumi de afi awo ntoatoaso biako mu akɔ foforo mu esiane sɛ na awofo no wɔ nti. Eyi yɛ awosu mu nsakrae a ɛba kwa.

Ɔkwan bɛn so na wohu sɛ obi anya Maffucci Syndrome?

Saa nhwehwɛmu ahorow yi betumi aboa oduruyɛfo ma wahu Maffucci yare no:

• Nipadua mu nhwehwɛmu: Oduruyɛfo no bɛhwɛ wo na wahwehwɛ nsɛnkyerɛnne biara a wotumi hu (te sɛ akuru anaa dɛmdi). Wobebisa wo yare no ho sɛnkyerɛnne nso ne sɛ ebia obi wɔ w’abusua mu anya tebea a ɛte saa ara anaa.
• X-ray anaa CT scan: Eyinom betumi atwa wo nnompe ho mfonini a emu da hɔ. Afei wobetumi ahu sɛ enchondromas bi wɔ hɔ, baabi a atrɛw akodu, ne sɛ ebia nnompe bi asɛe anaa.
• Ntini nhwɛsode a wɔfa denam oprehyɛn so na wɔhwehwɛ mu (`Biopsy`):Ɛtɔ mmere bi a, wɔyɛ oprehyɛn yi ntini ketewaa bi fi baabi a ɛyɛ hu (te sɛ dompe anaa honam ani akisikuru) na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu. Eyi ne nea ɛma ɛyɛ nea ɛyɛ pintinn.

Nnuruyɛfo atitiriw bɛn na wɔsa Maffucci Syndrome?

Sɛ wowɔ Maffucci yare no a, ebia nnuruyɛfo atitiriw kuw bi bɛbom asa wo yare. Nhwɛsoɔ:

• Honam ani yare ho ɔyaresafo: Ɔboa ma wɔsa honam ani nneɛma a enyin te sɛ hemangiomas, ɛtew so, anaasɛ sɛ ɛho hia a, woyi fi hɔ.
• Oduruyɛfo a ɔyɛ nnompe oprehyɛn: Ɔsa nnompe a abubu, ɔyɛ oprehyɛn siesie nnompe a asɛe, na otumi de oprehyɛn yi enchondromas nso.
• Nnompe mu kokoram ho ɔyaresafo: Sɛ kokoram te sɛ chondrosarcoma a yɛadi kan aka ho asɛm no nya a, nnuruyɛfo yi boa ma woyi fi hɔ na wɔhwɛ yare no so wɔ wɔn nkwa nna nyinaa mu hwɛ sɛ ebia ɛsan ba bio anaa.
• Radiologist: Wɔn ho akokwaw wɔ aduruyɛ mu mfoninitwa te sɛ X-ray ne CT scan mu, na ɛho hia wɔ nsakrae a ɛba nnompe mu bere a bere kɔ so no mu.

Ɔkwan bɛn so na wɔsa Maffucci Syndrome?

Sɛ yɛbɛka nokware a, ɔkwan biara nni hɔ a wɔbɛfa so asa Maffucci yare no koraa de besi nnɛ. Enti, ayaresa botae atitiriw ne:

• Kokoram a wobehu ntɛm na wɔde ayaresa a etu mpɔn kɛse ama.
• Nnompe a ɛpaapae a wobesiw ano anaasɛ wɔbɛsa.
• Nsɛnkyerɛnne te sɛ ɛyaw a wɔbɛtew so.

Mpɛn pii no, w’aduruyɛfo kuw no bɛkra sɛ wɔnyɛ aduruyɛ mu mfoniniyɛ mu nhwehwɛmu (te sɛ X-ray) mfa nhwɛ wo nnompe. Sɛ enchondromas anaa nnompe mu haw ahorow rehaw wo da biara da dwumadi ahorow a, ayaresa ahorow no betumi ayɛ:

• Sɛ wɔhyɛ braces anaasɛ wɔbɛyɛ wɔn oprehyɛn de asiesie scoliosis.
• Nnompe a wɔtow, nhama a wɔde kyekyere nnompe, ne oprehyɛn a wɔyɛ ma nnompe a abubu.
• Fa mpaboa soronko (mpaboa a wɔma so), nnuru, anaa oprehyɛn tew nsonsonoe a ɛwɔ nan tenten mu no so.
• Oprehyɛn a wɔyɛ de siesie nsa no mu dɛmdi.
• (Enchondrom) no betumi ayɛ oprehyɛn ayi afi hɔ. Nanso, eyinom betumi asan aba bio.

Sɛ hemangiomas a ɛwɔ wo honam ani no haw a, ebia wo duruyɛfo bɛkamfo aduru bi a wɔfrɛ no sclerotherapy akyerɛ wo. Nea ɛka eyi ho ne sɛ wɔde aduru bi bɛhyɛ honam ani de atew nea enyin no so. Sɛ ɛho hia a, wobetumi ayɛ oprehyɛn ayi hemangiomas no afi hɔ.

So wobetumi asiw Maffucci Syndrome ano?

Sɛnea yɛadi kan aka ho asɛm no, nyansahufo da so ara nte sɛnea awosu mu nsakrae a ɛde eyi ba no ba no ase yiye. Enti, mprempren ɔkwan pɔtee biara nni hɔ a wɔbɛfa so asiw ano.

Dɛn ne obi a ɔwɔ Maffucci Syndrome daakye?

Maffucci syndrome yɛ tebea a enni sabea, a ɛkɔ so wɔ ne nkwa nna nyinaa mu. Ebia nnipa binom wɔ nipadua mu haw nketenkete nkutoo, a ebia ɛrennya wɔn da biara da dwumadi so nkɛntɛnso kɛse. Nanso, wɔ afoforo fam no, nnompe mu haw no betumi ayɛ kɛse, na nipadua mu sintɔ ahorow betumi ayɛ kɛse.

Nea ɛho hia no, saa tebea yi nka nyansa. Nanso, sɛ kokoram ba a, hokwan wɔ hɔ sɛ ebetumi ama obi nkwa nna ayɛ tiaa.

Mɛyɛ dɛn ahwɛ me ho sɛ obi a ɔwɔ Maffucci Syndrome?

Esiane sɛ nnipa a wɔwɔ Maffucci syndrome no wɔ asiane kɛse mu sɛ wobenya kokoram nti, ɛho hia sɛ wɔyɛ nhwehwɛmu daa sɛnea w’aduruyɛfo kuw no kamfo kyerɛ no. Dodow a wohu kokoram ntɛm no, dodow no ara na ɛda adi sɛ wɔbɛsa no.

Nsonsonoe bɛn na ɛda Ollier Syndrome ne Maffucci Syndrome ntam?

Ollier syndrome ne Maffucci syndrome nyinaa yɛ tebea horow a ɛma ntini mu akisikuru a wɔfrɛ no enchondroma ba. Nanso, wɔ Maffucci yare no mu no, wohu mogya ntini mu akisikuru a wɔfrɛ no hemangiomas nso. Ollier syndrome nni hemangiomas. Ɛno ne nsonsonoe titiriw no.

So edin afoforo wɔ hɔ a wɔde frɛ Maffucci Syndrome?

Esiane sɛ ɛntaa nsi nti, ɛtɔ mmere bi a wɔde din afoforo frɛ tebea no, nanso ɛnyɛ nea abu so saa. Nhwɛso ahorow bi ni:

• `(Chondrodysplasia a ɛwɔ hemangioma)`
• `(Dyschondroplasia ne cavernous hemangioma)`
• `(Enchondromatosis a ɛwɔ hemangiomata)`
• `(Kast yareɛ)`

Ɛwom sɛ edin pii wɔ hɔ a ɛte sɛ eyi de, nanso edin a wɔtaa de di dwuma ne Maffucci Syndrome.

Awiei koraa no, nkrasɛm a wɔde kɔ fie

Sɛ wohu sɛ wo anaa wo ba anya Maffucci Syndrome a, ebetumi ayɛ den kakra. Ɛsɛ sɛ wohaw wo ho wɔ nnompe a abubu ne nnompe mu kokoram ho wo nkwa nna nyinaa. Ebetumi ayɛ ɔbrɛ nso sɛ wubehu nnuruyɛfo atitiriw ahorow na wɔtaa yɛ nhwehwɛmu.

Nanso, ahwɛyiye a wobɛyɛ te sɛ eyi, titiriw sɛ wobɛyɛ kokoram ho nhwehwɛmu ntɛm no betumi aboa kɛse wɔ wo nkwagye anaasɛ wobɛtrɛw mu. Kokoram a wubehu ntɛm na woasa no ne ɔkwan a eye sen biara a wobɛfa so ama w’akwahosan atu mpɔn. Wo duruyɛfo bɛkyerɛ wo sɛnkyerɛnne ahorow a ɛsɛ sɛ wohwɛ yiye wɔ ho.

Nha wo ho. Ɛnyɛ wo nkutoo na wowɔ hɔ. Nnuruyɛfo ne akuw a wɔboa wɔ hɔ a wɔbɛboa na wɔakyerɛ nnipa a wɔte saa tebea horow a ɛntaa nsi yi mu kwan. Nea ɛho hia sen biara ne sɛ wubenya nsɛm a ɛfata na woadi wo duruyɛfo afotu akyi.

` Maffucci syndrome, nnompe mu nyarewa, cartilage, hemangioma, kokoram ho asiane, awosu mu nyarewa, nyarewa a ɛntaa nsi