Cia peb kawm txog ib qho mob tsis tshua muaj uas cuam tshuam rau koj cov pob txha thiab daim tawv nqaij? (Maffucci Syndrome)

Koj puas tau hnov ​​txog ib yam kab mob txawv txawv uas ua rau koj cov pob txha muaj teeb meem, thiab qee zaum koj daim tawv nqaij? Tej zaum koj tau pom ib yam dab tsi zoo li pob txha tawm ntawm koj txhais tes lossis ceg, lossis cov xim liab lossis xim ntshav ntawm koj daim tawv nqaij. Qhov ntawd yog qhov peb yuav tham txog hnub no, ib qho mob nyuaj me ntsis, thiab tsis tshua muaj. Nws hu ua '(Maffucci Syndrome)'. Tsis txhob txhawj, peb yuav tham txog nws yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab.

Yog li, qhov Maffucci Syndrome no yog dab tsi?

Hais yooj yim xwb, Maffucci Syndrome yog ib yam mob tsis tshua muaj uas cuam tshuam rau koj cov pob txha thiab daim tawv nqaij. Nws muaj peb yam tseem ceeb:

1. Cov pob txha mos loj hlob ntau dhau hauv koj cov pob txha. Cov pob txha mos no yog cov nqaij tawv thiab yoog tau uas npog cov cheeb tsam xws li koj cov pob qij txha. Thaum cov no loj hlob mus ua qog hauv koj cov pob txha, peb hu lawv tias 'enchondromas'. Cov no tsis yog mob qog noj ntshav (benign), txhais tau tias lawv tsis txaus ntshai thaum xub thawj. Txawm li cas los xij, ntau pua, lossis txawm tias ntau txhiab, ntawm cov 'enchondromas' no tuaj yeem tshwm sim.

2. Cov 'enchondromas' no ua rau cov pob txha tsis zoo. Xav txog seb, yog tias muaj ib yam dab tsi loj hlob hauv pob txha yam tsis tsim nyog, cov duab ntawm pob txha ntawd yuav hloov pauv, puas yog? Nws yog li ntawd. Tej yam xws li luv ntawm cov ceg, ncab, thiab pob txha tawg tuaj yeem tshwm sim.

3. Hemangiomas yog cov pob uas zoo li cov hlab ntsha txawv txawv uas sib xyaw ua ke ntawm qhov chaw ntawm daim tawv nqaij. Cov no tuaj yeem zoo li liab, xiav, lossis ntshav.

Cov pob txha mos no, hu ua enchondromas, feem ntau pom muaj nyob rau hauv cov pob txha ntawm koj cov ntiv tes thiab cov ntiv taw. Txawm li cas los xij, lawv kuj tuaj yeem cuam tshuam rau cov cheeb tsam hauv qab no:

• Cov Caj Npab
• Ceg
• Nqaij tav
• Pob txha taub hau
• Cov pob txha caj qaum (vertebrae)

Qhov tseem ceeb, cov enchondromas no thaum xub thawj tsis yog mob qog noj ntshav (benign), tab sis qee zaum tuaj yeem dhau los ua mob qog noj ntshav (malignant). Muaj coob tus neeg uas muaj Maffucci syndrome (txog li 50% raws li qee qhov kev tshawb fawb) muaj feem yuav mob qog noj ntshav hu ua chondrosarcoma, uas pib hauv cov hlwb pob txha mos. Lawv kuj muaj feem yuav mob qog noj ntshav lwm yam.

Maffucci Syndrome no muaj ntau npaum li cas?

Qhov tseeb, qhov no yog ib qho mob tsis tshua muaj. Tsuas muaj ob peb puas tus neeg mob tau tshaj tawm hauv cov ntaub ntawv kho mob thoob ntiaj teb, yog li nws tsis yog qhov xav tsis thoob yog tias koj tsis tau hnov ​​​​​​txog nws ua ntej.

Cov tsos mob ntawm Maffucci Syndrome yog dab tsi?

Cov tsos mob ntawm tus kab mob Maffucci syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Ib txhia neeg yuav muaj cov tsos mob me me xwb, thaum lwm tus yuav muaj cov tsos mob hnyav dua. Cov tsos mob no yuav muaj thaum yug los, lossis lawv yuav pib tshwm sim thaum yau.

Cov tsos mob tseem ceeb yog tshwm sim los ntawm cov qog nqaij hlav uas peb tau tham txog hu ua "enchondromas." Lawv tuaj yeem ua rau muaj xws li:

• Mob pob txha
• Pob txha tawg - Pob txha tuaj yeem tawg txawm tias poob me me los xij.
• Caj npab lossis ceg khoov
• Cov pob txha o - zoo li cov pob.
• Kab mob scoliosis - zoo ib yam li cov kab mob ntawm lub cev .
• Osteolysis ( kev tawg pob txha )
• luv luv
• caj npab lossis ceg tsis sib npaug - ib qho zoo li ntev dua lossis luv dua li lwm qhov.

Cov qog ntshav hauv cov hlab ntsha, hu ua hemangiomas, tuaj yeem ua rau muaj cov tsos mob xws li:

• Cov ntshav txhaws
• Lymphangiomas - Cov no zoo li cov pob uas muaj cov kua dej lymph.
• Cov pob liab, ntshav, lossis xiav ntawm daim tawv nqaij (hemangiomas) - feem ntau pom ntawm tes. Thaum lub sijhawm dhau mus, cov no tuaj yeem tawv thiab tawv.
• Cov leeg nqaij tsis tau loj hlob - nyob rau thaj chaw cuam tshuam.

Dab tsi ua rau Maffucci Syndrome?

Maffucci syndrome yog ib qho teeb meem caj ces. Qhov no txhais tau tias nws yog los ntawm kev hloov pauv (kev hloov pauv) hauv peb cov noob caj ces. Tshwj xeeb, nws yog los ntawm kev hloov pauv random hauv ib qho ntawm ob lub noob caj ces hu ua 'IDH1' (feem ntau) lossis 'IDH2' (tsis tshua muaj). Cov kws tshawb fawb ntseeg tias qhov kev hloov pauv caj ces no tshwm sim thaum tus menyuam tseem nyob hauv plab, uas yog, ua ntej yug los. Cov noob caj ces 'IDH' no pab tsim '(enzymes)' uas tseem ceeb rau kev ua haujlwm ntawm cov hlwb hauv peb lub cev. Txawm li cas los xij, cov kws tshawb fawb tseem tsis tau pom qhov kev sib raug zoo ntawm '(enzymes)' no thiab Maffucci syndrome.

Qhov tseem ceeb tshaj plaws yog qhov no tsis yog kab mob uas los ntawm noob caj noob ces. Qhov ntawd yog, nws tsis yog ib yam dab tsi uas tuaj yeem kis tau los ntawm ib tiam neeg mus rau lwm tiam neeg vim yog niam txiv muaj tus kab mob no. Qhov no yog kev hloov pauv caj ces uas tsis tau npaj tseg.

Yuav kuaj mob Maffucci Syndrome li cas?

Cov kev kuaj no tuaj yeem pab tus kws kho mob kuaj mob Maffucci syndrome:

• Kev kuaj lub cev: Tus kws kho mob yuav kuaj koj thiab nrhiav seb puas muaj cov cim qhia tias koj lub cev puas zoo li qub (xws li pob lossis puas muaj qhov tsis zoo). Lawv kuj yuav nug txog koj cov tsos mob thiab seb puas muaj leej twg hauv koj tsev neeg tau muaj cov mob zoo sib xws.
• Cov duab X-rays lossis CT scans: Cov no tuaj yeem thaij duab meej ntawm koj cov pob txha. Tom qab ntawd lawv tuaj yeem pom seb puas muaj enchondromas, lawv tau kis mus deb npaum li cas, thiab seb puas muaj kev puas tsuaj rau pob txha.
• Kev phais thiab kuaj xyuas cov ntaub so ntswg (Biopsy):Qee zaum, ib daim nqaij me me raug phais tshem tawm ntawm qhov chaw uas muaj kev xav tias muaj (xws li pob txha lossis daim tawv nqaij) thiab kuaj hauv qab lub tshuab microscope. Qhov no yog qhov ua rau nws paub tseeb.

Cov kws tshwj xeeb twg kho Maffucci Syndrome?

Yog koj muaj tus mob Maffucci syndrome, ib pab neeg kws kho mob tshwj xeeb yuav tuaj ua ke los kho koj. Piv txwv li:

• Kws Kho Mob Tawv Nqaij: Pab kho, txo, lossis, yog tias tsim nyog, tshem tawm cov qog nqaij hlav xws li hemangiomas.
• Kws phais pob txha: Kho cov pob txha tawg, phais kho cov pob txha tsis zoo, thiab tseem tuaj yeem phais tshem tawm cov enchondromas.
• Kws Kho Mob Pob Qij Txha: Yog tias muaj mob qog noj ntshav zoo li chondrosarcoma uas peb tau tham txog ua ntej, cov kws kho mob no yuav pab tshem nws tawm thiab saib xyuas tus kab mob thoob plaws lub neej kom pom tias nws puas rov tshwm sim dua.
• Kws Kho Mob X-ray: Lawv tshwj xeeb hauv kev thaij duab kho mob, xws li X-rays thiab CT scans, thiab tseem ceeb hauv kev ntsuam xyuas cov kev hloov pauv hauv cov pob txha dhau sijhawm.

Yuav kho tus mob Maffucci Syndrome li cas?

Yog hais qhov tseeb, tseem tsis tau muaj txoj hauv kev los kho tus mob Maffucci syndrome kom zoo tag nrho. Yog li ntawd, lub hom phiaj tseem ceeb ntawm kev kho mob yog:

• Tshawb pom mob qog noj ntshav thaum ntxov thiab muab kev kho mob zoo dua.
• Tiv thaiv lossis kho cov pob txha tawg.
• Txo cov tsos mob xws li mob.

Koj pab neeg kho mob feem ntau yuav xaj kom kuaj duab kho mob (xws li X-rays) los saib xyuas koj cov pob txha. Yog tias enchondromas lossis teeb meem pob txha cuam tshuam rau koj cov dej num txhua hnub, kev kho mob yuav suav nrog:

• Hnav cov braces lossis phais kom kho qhov scoliosis.
• Cov hlau cam khwb cia, cov hlau nplaum, thiab phais rau cov pob txha tawg.
• Txo qhov sib txawv ntawm qhov ntev ntawm ceg nrog cov khau tshwj xeeb (kev tsa khau), tshuaj, lossis phais.
• Phais kom kho cov qhov puas ntawm tes.
• (Encondromas) tuaj yeem raug phais tshem tawm. Txawm li cas los xij, cov no tuaj yeem rov tshwm sim dua.

Yog tias cov hemangiomas ntawm koj daim tawv nqaij ua rau koj mob, koj tus kws kho mob yuav pom zoo kom siv txoj kev kho mob hu ua sclerotherapy. Qhov no suav nrog kev txhaj tshuaj rau hauv daim tawv nqaij kom txo cov qog. Yog tias tsim nyog, cov hemangiomas tuaj yeem raug phais tshem tawm.

Puas tiv thaiv tau Maffucci Syndrome?

Raws li peb tau tham ua ntej lawm, cov kws tshawb fawb tseem tsis tau nkag siab meej tias qhov kev hloov pauv caj ces uas ua rau qhov no tshwm sim li cas. Yog li ntawd, tam sim no tsis muaj txoj hauv kev tshwj xeeb los tiv thaiv nws.

Yav tom ntej ntawm ib tug neeg uas muaj tus kab mob Maffucci Syndrome yuav zoo li cas?

Maffucci syndrome yog ib yam mob uas yuav mob mus tas li. Tej tus neeg yuav muaj teeb meem me me xwb, uas tej zaum yuav tsis muaj feem cuam tshuam rau lawv tej dej num niaj hnub. Txawm li cas los xij, rau lwm tus, tej teeb meem pob txha yuav hnyav dua, thiab tej zaum yuav muaj kev txwv ntawm lub cev ntau dua.

Qhov tseem ceeb, qhov mob no tsis cuam tshuam rau kev txawj ntse. Txawm li cas los xij, yog tias mob qog noj ntshav tshwm sim, muaj feem yuav ua rau lub neej luv dua.

Kuv yuav saib xyuas kuv tus kheej li cas thaum kuv muaj tus kab mob Maffucci Syndrome?

Vim tias cov neeg uas muaj tus kab mob Maffucci syndrome muaj feem yuav mob qog noj ntshav ntau dua, nws yog ib qho tseem ceeb uas yuav tsum tau kuaj mob tsis tu ncua raws li koj pab neeg kho mob tau hais. Yog tias koj pom tus kab mob qog noj ntshav sai sai, ces yuav kho tau yooj yim dua.

Qhov txawv ntawm Ollier Syndrome thiab Maffucci Syndrome yog dab tsi?

Ollier syndrome thiab Maffucci syndrome yog ob qho mob uas ua rau cov qog nqaij hlav hu ua enchondroma tshwm sim. Txawm li cas los xij, hauv Maffucci syndrome, cov qog ntshav hu ua hemangiomas kuj pom muaj. Ollier syndrome tsis muaj hemangiomas. Qhov ntawd yog qhov sib txawv tseem ceeb.

Puas muaj lwm lub npe rau Maffucci Syndrome?

Vim tias nws tsis tshua muaj, qee zaum cov mob no raug hu ua lwm lub npe, tab sis lawv tsis tshua muaj. Nov yog qee qhov piv txwv:

• `(Chondrodysplasia nrog hemangioma)`
• `(Dyschondroplasia thiab cavernous hemangioma)`
• `(Encondromatosis nrog hemangiomata)`
• `(Kast syndrome)`

Txawm hais tias muaj ntau lub npe zoo li no, lub npe feem ntau siv yog Maffucci Syndrome.

Thaum kawg, cov lus coj mus tsev

Yog tias koj lossis koj tus menyuam raug kuaj pom tias muaj Maffucci Syndrome, nws yuav ua rau koj ntxhov siab me ntsis. Koj yuav tsum txhawj txog pob txha tawg thiab mob qog nqaij hlav rau koj lub neej. Nws kuj tseem yuav ua rau koj nkees mus ntsib ntau tus kws kho mob tshwj xeeb thiab kuaj mob ntau zaus.

Tiam sis, kev ceev faj li no, tshwj xeeb tshaj yog kev kuaj mob qog noj ntshav thaum ntxov, tuaj yeem pab tau ntau yam hauv kev cawm lossis ncua koj lub neej. Kev kuaj pom thiab kho mob qog noj ntshav thaum ntxov yog txoj hauv kev zoo tshaj plaws los txhim kho koj txoj kev noj qab haus huv. Koj tus kws kho mob yuav qhia koj seb cov tsos mob twg yuav tsum tau saib xyuas.

Tsis txhob txhawj. Koj tsis nyob ib leeg xwb. Muaj cov kws kho mob thiab cov pab pawg txhawb nqa los pab thiab coj cov neeg uas muaj cov mob tsis tshua muaj no. Qhov tseem ceeb tshaj plaws yog kom tau txais cov ntaub ntawv raug thiab ua raws li koj tus kws kho mob cov lus qhia.

Maffucci syndrome, cov kab mob pob txha, cov pob txha mos, hemangioma, kev pheej hmoo ntawm mob qog noj ntshav, cov kab mob caj ces, cov kab mob tsis tshua muaj