Lɛ wi lan bɔt wan sik we nɔ kin apin so ɔltɛm we kin afɛkt yu bon ɛn yu skin? (Maffucci Syndrome) we gɛt di sik we dɛn kɔl Maffucci Syndrome .

Yu dɔn ɛva yɛri bɔt wan strenj sik we kin mek yu bon dɛn gɛt prɔblɛm wantɛm wantɛm, ɛn sɔntɛnde yu skin kin gɛt prɔblɛm? Sɔntɛm yu dɔn notis sɔntin lɛk bon we de kɔmɔt na yu an ɔ yu leg, ɔ rɛd ɔ pepul spat dɛn na yu skin. Na dat wi go tɔk bɔt tide, wan kɔndishɔn we kɔmplikt smɔl, ɛn we nɔ kin apin so ɔltɛm. Dɛn kɔl am `(Maffucci Syndrome)`. Nɔ wɔri, wi go tɔk bɔt am simpul wan, di we we yu go ɔndastand.

So, wetin na dis Maffucci Syndrome?

Fɔ tɔk am simpul wan, Maffucci Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt yu bon ɛn skin. I gɛt fɔ du wit tri men tin dɛn:

1. Katilaj de gro tumɔs insay yu bon dɛn. dis katilej na wan taf, fleksibul tisu we de kכba εria dεm lεk yu joyn dεm. we dεn ya de gro to tכmכro dεm insay yu bon dεm, wi kin kכl dεm `enchondromas`. Dɛn tin ya nɔto kansa (benign), we min se dɛn nɔ denja fɔs. כltu, כndrεd, כ ivin tawzin, pan dεn `enchondromas` ya kin divεlכp.

2. dis `(enchondromas)` dεm de mek di skel dεm difכmiti. Imajin, if sɔntin gro insay wan bon we nɔ nid, di shep fɔ da bon de kin chenj, nɔto so? Na so i bi. Tin dɛm lɛk fɔ shɔt pat pan yu an, fɔ strɛch, ɛn fɔ brok kin apin.

3. εmanjioma na lumps we de sho lεk abnכmal bכdi vεsεl dεm we tכn tכgeda na di sεf fכ di skin. Dɛn tin ya kin tan lɛk rɛd, blu, ɔ pepul.

dis katilej growth dεm we dεn kכl enchondromas, kin de mכst na di bon dεm na yu finga dεm εn yu fut finga dεm. Bɔt dɛn kin afɛkt dɛn tin ya bak:

• Arm dɛn
• Leg dɛn
• Rib dɛn
• Skull we de na di bɔdi
• Vεrbra (vεrbra) .

di imכtant tin na dat, dεn εnkondrכma ya fכs nכ kin bi kεnsar (benign), b כt sכmtεm dεn kin bi malignant (malignant). wan big nכmba pan pipul dεm we gεt Maffucci syndrome (we de rich 50% akɔdin to sכm stכdi dεm) de pan risk fכ gεt wan kayn bon kεnsar we dεn kכl chondrosarcoma, we de stat na di katilej sεl dεm. Dɛn kin gɛt mɔ risk bak fɔ gɛt ɔda kayn kansa.

Aw kɔmɔn tin na Maffucci Syndrome?

Infakt, dis na tin we nɔ kin apin so ɔltɛm. Na wan wan ɔndrɛd pipul dɛn nɔmɔ dɛn dɔn ripɔt na di mɛdikal rɛkɔd dɛn ɔlsay na di wɔl, so i nɔ go sɔprayz if yu nɔ yɛri bɔt am bifo.

Wetin na di sayn dɛm fɔ Maffucci Syndrome?

De sayn dɛm fɔ Maffucci syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, wae ɔda wan kin gɛt bɔrku sayn dɛm wae kin tranga pasmak. Dɛn sayn ya kin de we dɛn bɔn am, ɔr dɛn kin bigin fɔ sho we dɛn smɔl.

di men simptom dεm na dεn kכtilaj tכmכro dεm we wi bin tכk bכt we dεn kכl ``enchondromas.'' Dɛn kin mek tin dεm lεk:

• Bɔn pen
• Bon fraktכs – Bon kin brok ivin we i fכl sכmtεm.
• An ɔ leg dɛn we dɛn butu
• Bɔn dɛn we de bɔl – de sho lɛk lumps.
• di spayna we kכba – we sכm kayn we lεk sכliכsis.
• Osteolysis ( bɔn we de brok ) .
• Short ayt
• di an כ leg dεm we nכ ivin – wan de sho lכng כ sכt pas di כda wan.

di tכmכro dεm na di bכdi we de na di bכdi we dεn kכl hεmangiomas kin mek yu gεt sכmtεm dεm lεk:

• Blɔd we de klɔt
• Limfanjioma – Dɛn tin ya tan lɛk lumps we ful-ɔp wit limf wata.
• Rɛd, pepul, ɔ blu bɔmp na di skin (hemangiomas) – dɛn kin si am mɔ na di an. As tɛm de go, dɛn tin ya kin at ɛn krɔs.
• di mכsul dεm we nכ de divεlכp – na di εria we di sik afekt.

Wetin kin mek pɔsin gɛt Maffucci Syndrome?

Maffucci syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks. dis min se na wan chenj (mכteshכn) we de na wi jin dεm de kכz am. spεshal wan, i de kכz bay wan random chenj na wan pan tu jin dεm we dεn kכl `IDH1` (mכst kכmכn) כ `IDH2` (rεli). Risach pipul dεm biliv se dis jεnεtik mכtεshכn kin apin we pikin stil de na in bεlε, dat na bifo dεn bכn am. dis `IDH` jin dεm de εp fכ prodyuz `(enzymes)` we imכtant fכ di fכnshכn fכ di sεl dεm na wi bכdi. כltu, sayɛnsman dεm nכ ebul fכ no yet di εksakכt rilayshכn bitwin dεn `(εnzym)` dεm ya εn Maffucci sεndrכm.

Di tin we impɔtant pas ɔl na dat dis nɔto sik we pɔsin kin gɛt frɔm in mama ɛn papa. Dat min se, i nɔto sɔntin we pɔsin kin pas frɔm wan jɛnɛreshɔn to ɔda wan bikɔs di mama ɛn papa bin gɛt am. Dis na random jenɛtik mutation.

Aw dɛn kin no se pɔsin gɛt Maffucci Syndrome?

Dɛn tɛst ya kin ɛp dɔktɔ fɔ no if i gɛt Maffucci syndrome:

• Fɔ ɛgzamin yu bɔdi: Di ​​dɔktɔ go chɛk yu ɛn luk fɔ ɛni sayn we yu kin si (lɛk fɔ gɛt lumps ɔ fɔ mek yu nɔ ebul fɔ du am). Dɛn go aks bak bɔt yu sik ɛn if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik.
• X-ray ɔ CT skan: Dɛn tin ya kin tek klia pikchɔ fɔ yu bon dɛn. Dɔn dɛn kin si if ɛni ɛnkɔndrɔma de, aw fa dɛn dɔn skata, ɛn if ɛni bon dɔn pwɛl.
• Fɔ tek tisu sɛmpul dɛn tru ɔpreshɔn ɛn ɛgzamin dɛn (`Biopsy`):Sɔntɛnde, dɛn kin du ɔpreshɔn fɔ pul wan smɔl pat pan di tisu na say we dɛn tink se de apin (lɛk bon ɔ skin lump) ɛn chɛk am ɔnda maykroskɔp. Dis na wetin mek i bi difinitiv.

Us kayn spɛshal pipul dɛn kin trit Maffucci Syndrome?

If yu gɛt Maffucci syndrome, wan tim we gɛt difrɛn spɛshal pipul dɛn kin kam togɛda fɔ trit yu. Fɔ ɛgzampul:

• Dɛmatɔlɔjis: I de ɛp fɔ trit, ridyus, ɔ if nid de, pul di tin dɛn we de gro na di skin lɛk ɛmanjiɔm.
• Ɔtpidik ɔspitul: I kin trit di wan dɛn we brok, i kin du ɔpreshɔn fɔ kɔrɛkt di bon dɛn we nɔ fayn, ɛn i kin ɔpreshɔn bak fɔ pul di ɛnkɔndrɔma dɛn.
• Ɔtpidik ɔnkɔlɔjis: If kansa lɛk di chondrosarcoma we wi bin dɔn tɔk bɔt bifo tɛm kam, dɛn dɔktɔ ya kin ɛp fɔ pul am ɛn wach di sik ɔlsay na in layf fɔ si if i kam bak.
• Radiologist: Dɛn spɛshal pan mɛdikal imej, lɛk X-ray ɛn CT skan, ɛn dɛn impɔtant fɔ asɛs di chenj dɛn we de apin na di bon dɛn as tɛm de go.

Aw dɛn kin trit Maffucci Syndrome?

Fɔ tɔk tru, no we nɔ de fɔ mɛn Maffucci syndrome kɔmplit wan yet. So, di men gol dɛm fɔ tritmɛnt na:

• Fɔ no kansa kwik ɛn fɔ gi mɔ tritmɛnt we go wok fayn.
• Fɔ mek yu nɔ brok ɔ fɔ trit bon dɛn we nɔ brok.
• Fɔ ridyus di sayn dɛm lɛk pen.

Bɔku tɛm yu mɛdikal tim go ɔda fɔ mek dɛn du mɛdikal imej tɛst (lɛk ɛkstrem rayt) fɔ wach yu bon dɛn. If ɛnkɔndrɔma ɔ bon prɔblɛm de ambɔg yu ɛvride, di tritmɛnt dɛn kin bi:

• Fɔ wɛr bres ɔ fɔ gɛt ɔpreshɔn fɔ kɔrɛkt skɔliosis.
• Kast, splint, ɛn ɔpreshɔn fɔ brok bon.
• Ridyus di difrɛns pan di leg lɔng wit spɛshal sus (shue lift), mɛrɛsin, ɔ ɔpreshɔn.
• Ɔpreshɔn fɔ kɔrɛkt di difɔmiti dɛn na di an dɛn.
• (Enchondromas) dɛn kin pul am bay ɔpreshɔn. Bɔt, dɛn tin ya kin apin bak.

If di hemangiomas na yu skin de mɔna yu, yu dɔktɔ kin tɛl yu fɔ tek wan tritmɛnt we dɛn kɔl sklɛrotɛrapi. Dis involv fɔ injekt sɔlvushɔn na di skin fɔ mek di tin dɛn we de gro smɔl. If nid de, dɛn kin ɔpreshɔn fɔ pul di ɛmanjiɔm dɛn.

Yu tink se dɛn kin ebul fɔ avɔyd Maffucci Syndrome?

As wi bin dɔn tɔk bifo tɛm, sayɛnsman dɛn stil nɔ ɔndastand gud gud wan aw di jɛnɛtik chenj we kin mek dis apin kin apin. So, naw, no patikyula we nɔ de fɔ mek i nɔ apin.

Wetin na di fiuja fɔ pɔrsin wae gɛt Maffucci Syndrome?

Maffucci syndrome na wan sik wae nɔr de mɛn, wae de teik yu layf. Sɔm pipul dɛn kin gɛt smɔl smɔl prɔblɛm dɛn nɔmɔ na dɛn bɔdi, we nɔ kin rili afɛkt di tin dɛn we dɛn kin du ɛvride. Bɔt fɔ ɔda pipul dɛn, di prɔblɛm dɛn we kin mit dɛn bon kin rili tranga, ɛn dɛn kin gɛt prɔblɛm wit dɛn bɔdi mɔ ɛn mɔ.

Impɔtant tin na dat, dis kɔndishɔn nɔ de afɛkt di sɛns. Bɔt if kansa kam, chans de fɔ mek i nɔ de liv lɔng.

Aw a go tek kia ɔf misɛf as pɔsin we gɛt Maffucci Syndrome?

Bikɔs pipul dɛm wae gɛt Maffucci syndrome kin gɛt bɔrku risk fɔ gɛt kansa, i impɔtant fɔ de screening ɔltɛm lɛk aw yu mɛdikal tim dɔn se. Di kwik we dɛn no se pɔsin gɛt kansa, na di mɔ i go izi fɔ mek dɛn trit am.

Wetin na di difrɛns bitwin Ollier Syndrome ɛn Maffucci Syndrome?

Ollier syndrome εn Maffucci syndrome na dεn tu kכndyushכn dεm we di kכtilaj tכmכro dεm we dεn kכl enchondroma de divεlכp. Bɔt pan di sik we dɛn kɔl Maffucci syndrome, dɛn kin si bak di blɔd vesel dɛn we dɛn kɔl hemangiomas. Ollier syndrome nɔ gɛt hemangiomas. Na dat na di men difrɛns.

Ɔda nem dɛn de fɔ Maffucci Syndrome?

Bikɔs i nɔ kin bɔku, sɔntɛnde dɛn kin kɔl di sik ɔda nem dɛn, bɔt dɛn nɔ kin bɔku. Na sɔm ɛgzampul dɛn ya:

• `(Kɔndrodisplasia wit ɛmanjiɔma)`
• `(Diskɔndroplasia ɛn kavnɔs ɛmanjiɔma)`
• `(Enchondromatosis wit hεmangiomata)`
• `(Kast sindrom)`

Pan ɔl we bɔku nem dɛn de lɛk dis, di nem we dɛn kin yuz mɔ na Maffucci Syndrome.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

If dɛn no se yu ɔ yu pikin gɛt Maffucci Syndrome, i kin mek yu at pwɛl smɔl. Yu fɔ wɔri bɔt fraktrɔs ɛn bon kansa fɔ di res ɔf yu layf. I kin taya bak fɔ si difrɛn spɛshal pipul dɛn ɛn du tɛst ɔltɛm.

Bɔt, fɔ tek tɛm lɛk dis, mɔ fɔ du tɛst fɔ kansa kwik, kin go fa fɔ sev ɔr lɔng yu layf. Fɔ no ɛn trit kansa kwik kwik wan na di bɛst we fɔ mek yu gɛt wɛlbɔdi. Yu dɔktɔ go tɛl yu us sayn dɛn fɔ wach fɔ.

Nɔ wɔri. Nɔto yu wan de. Dɔktɔ ɛn sɔpɔt grup dɛn de fɔ ɛp ɛn gayd pipul dɛn we de liv wit dɛn kayn tin ya we nɔ kin apin so ɔltɛm. Di tin we impɔtant pas ɔl na fɔ gɛt di rayt infɔmeshɔn ɛn fala yu dɔktɔ in advays.

` Maffucci syndrome, bon sik, katilej, hemangioma, kansa risk, jenɛtik sik, sik dɛn we nɔ kin bɔku