Koj puas muaj cov tsos mob txawv txawv ntawm koj daim tawv nqaij lossis lub paj hlwb? Cia peb kawm txog qhov '(Neurocutaneous Syndrome)' no!

Koj puas tau pom tias muaj ib txhia neeg muaj cov pob lossis pob txawv txawv ntawm lawv daim tawv nqaij? Qee zaum cov no tsis yog tsuas yog teeb meem ntawm daim tawv nqaij xwb. Hnub no peb yuav tham txog ib pawg kab mob uas nyuaj me ntsis, tab sis tseem ceeb heev uas yuav tsum paub. Peb hu cov kab mob neurocutaneous syndromes no. Txawm hais tias lub npe yuav zoo li ntshai me ntsis, cia peb nkag siab yooj yim.

Cov mob neurocutaneous syndromes no yog dab tsi?

Hais yooj yim xwb, cov kab mob neurocutaneous syndromes yog ib pawg kab mob uas cuam tshuam rau peb daim tawv nqaij thiab lub paj hlwb (uas yog, lub hlwb, tus txha caj qaum, thiab cov hlab ntsha). Cov mob no tuaj yeem ua rau muaj qog nqaij hlav hauv ntau qhov ntawm lub cev, tshwj xeeb tshaj yog daim tawv nqaij thiab lub paj hlwb. Ib txhia ntawm cov qog nqaij hlav no tuaj yeem yog mob qog noj ntshav, thaum lwm tus tuaj yeem tsis yog mob qog noj ntshav (tsuas yog cov qog me me xwb).

Qhov tseem ceeb yog tias cov mob no yog los ntawm noob neej los. Qhov no txhais tau tias ib tug neeg yug los nrog tus mob no. Txawm li cas los xij, qee zaum cov tsos mob yuav siv sijhawm ntev kom tshwm sim, qee zaum thaum hluas lossis tom qab ntawd. Pawg kab mob no kuj hu ua Phakomatoses . Vim tias lub npe ntawd tsis tshua muaj, cia peb nco ntsoov tias nws hu ua neurocutaneous syndrome.

Cov xwm txheej no feem ntau tshwm sim li cas?

Qhov tseeb, pawg kab mob no hu ua neurocutaneous syndromes yog tsawg heev . Txawm li cas los xij, qee qhov ntawm lawv pom ntau dua li lwm tus. Piv txwv li:

• Neurofibromatosis hom 1 (NF1): Qhov no yog tus mob uas pom ntau tshaj plaws hauv pawg no. Nws cuam tshuam txog li 1 ntawm 3,000 tus neeg .
• Neurofibromatosis hom 2 (NF2): Qhov no tsis tshua muaj. Nws cuam tshuam rau kwv yees li 1 ntawm 25,000 tus neeg .
• Tuberous Sclerosis : Qhov no kuj tsis tshua muaj, cuam tshuam txog ib tus ntawm 6,000 tus neeg .

Koj puas pom? Cov no tsis yog cov kab mob uas tshwm sim txhua hnub. Tab sis yog tias koj lossis ib tus neeg koj paub muaj ib yam dab tsi zoo li no, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog nws.

Cov tsos mob ntawm tus kab mob neurocutaneous syndrome yog dab tsi?

Cov tsos mob tseem ceeb ntawm cov mob no yog cov qog nqaij hlav tsis zoo lossis cov pob ntawm daim tawv nqaij thiab lub paj hlwb . Ntxiv rau cov no, cov tsos mob no kuj tseem tuaj yeem cuam tshuam rau peb lub cev pob txha (uas yog, peb cov pob txha) thiab lwm yam hauv lub cev. Yog li ntawd, cov tsos mob xws li:

• Teeb meem kev sib npaug thaum taug kev (xav tias koj poob koj qhov kev sib npaug).
• Kev hnov ​​​​lus tsis zoo (kev hnov ​​​​lus tsis zoo).
• Teeb meem pom kev (ntau yam teeb meem nrog kev pom kev).

Txawm li cas los xij, tsis yog txhua tus mob neurocutaneous syndromes muaj cov tsos mob zoo ib yam. Cov tsos mob sib txawv nyob ntawm tus mob. Cia peb saib ob peb qho piv txwv:

• Incontinentia Pigmenti (IP): Qhov no yog ib qho mob uas cov pob khaus pib ua cov pob khaus ntawm daim tawv nqaij thiab tom qab ntawd loj hlob mus ua cov pob khaus zoo li qhov caws pliav . Qee zaum, qhov no kuj tuaj yeem nrog cov teeb meem ntawm lub paj hlwb. Xav txog ib tug menyuam yaus me me uas tam sim ntawd muaj cov pob khaus ntawm lawv daim tawv nqaij, uas tom qab ntawd qhuav, tawm hauv cov pob zoo li txawv txawv.
• Neurofibromatosis hom 1 (NF1): Qhov no feem ntau ua rau cov nqaij mos mos loj hlob tuaj uas tsis yog mob qog noj ntshav. Cov tawv nqaij tsis zoo li qub, xws li cov cim yug los xim av (tseem hu ua cov chaw café-au-lait) thiab cov chaw me me hauv cov tawv nqaij (xws li qhov tsoob thiab qhov ncauj), tuaj yeem tshwm sim. Qee zaum, cov qog loj hlob kuj tuaj yeem tshwm sim hauv qhov muag.
• Neurofibromatosis hom 2 (NF2): Tus mob no feem ntau ua rau muaj cov hlab ntsha acoustic , uas tuaj yeem ua rau muaj teeb meem pom kev, hnov ​​​​lus tsis zoo, thiab cov cim yug me nyuam xim av daj.
• Schwannomatosis : Qhov no tuaj yeem ua rau muaj cov tsos mob xws li loog, leeg tsis muaj zog, hnov ​​​​lus tsis zoo, thiab mob hnyav .
• Sturge-Weber Syndrome : Qhov no yog ib qho mob uas muaj ib qho xim liab tsaus loj, xim av daj tshwm sim rau ntawm ib sab ntawm lub ntsej muag. Nws kuj tseem tuaj yeem ua rau muaj kev hloov pauv hauv cov hlab ntsha hauv lub hlwb thiab glaucoma , ib qho mob uas ua rau muaj kev ntxhov siab ntxiv hauv lub qhov muag. Ib txhia neeg kuj tseem yuav muaj kev qaug dab peg thiab kev tsis taus ntawm lub hlwb.
• Kab mob hlab ntsha tawg (tuberous sclerosis ): Feem ntau tus mob no ua rau muaj teeb meem rau lub hlwb, qhov muag, daim tawv nqaij, lub plawv, thiab lub ntsws . Cov tsos mob tseem ceeb yog kev loj hlob ntawm cov qog uas tsis yog mob qog noj ntshav hauv ntau yam kabmob.
• Kab mob Von Hippel-Lindau : Qhov no tuaj yeem ua rau muaj qog hu ua hemangioblastomas thiab angiomas hauv cov qog adrenal , qhov muag, lub hlwb, thiab lub raum.

Tom qab koj mloog cov lus piav qhia no tas, tej zaum koj yuav nkag siab tias cov mob no muaj ntau yam thiab nyuaj npaum li cas. Yog vim li ntawd nws thiaj li tseem ceeb uas yuav tsum nrhiav kev pab kho mob tam sim ntawd yog tias koj muaj cov tsos mob no.

Puas yog neurocutaneous syndrome ua rau muaj teeb meem?

Yog, hmoov tsis zoo, cov neeg uas muaj cov kab mob neurocutaneous syndromes muaj feem yuav mob qog noj ntshav ntau dua. Tsis tas li ntawd xwb, muaj kev pheej hmoo ntawm lwm yam teeb meem vim yog cov mob no. Ib txhia ntawm lawv yog:

• Kev loj hlob qeeb`(Kev loj hlob qeeb)`: Tsis pom kev loj hlob raws li hnub nyoog, tshwj xeeb tshaj yog rau cov menyuam yaus.
• Qaug dab peg : Qhov no txhais tau tias qaug dab peg .
• Mob taub hau : Mob taub hau ntau zaus, qee zaum mob taub hau hnyav.
• Ntshav siab (Hypertension).
• Kev tsis taus kawm .
• Ntau hom qog nqaij hlav : Cov no yuav yog lossis tsis yog qog nqaij hlav.

Yog li ntawd, nws yog ib qho tseem ceeb heev rau ib tus neeg uas muaj tus mob no kom nyob hauv kev saib xyuas mob tas li.

Dab tsi ua rau muaj tus mob neurocutaneous syndrome?

Cov kab mob neurocutaneous no yog tshwm sim los ntawm qee qhov kev hloov pauv (kev hloov pauv) hauv cov noob caj noob ces hauv peb lub cev. Xav txog nws li no: peb lub cev zoo li daim phiaj loj, thiab cov noob caj noob ces yog cov lus qhia hauv daim phiaj ntawd. Yog tias muaj kev hloov pauv me me hauv cov lus qhia no, nws tuaj yeem cuam tshuam rau kev ua haujlwm ntawm lub cev.

Qee zaum, cov kev hloov pauv caj ces no yog los ntawm niam txiv mus rau cov menyuam . Qhov ntawd txhais tau tias lawv tuaj yeem kis tau los ntawm ib tiam mus rau ib tiam. Tab sis, qhov ntawd tsis yog txhua lub sijhawm. Qee zaum, cov kev hloov pauv caj ces no tuaj yeem tshwm sim yam tsis muaj laj thawj pom tseeb, tsis muaj keeb kwm tsev neeg . Nws zoo li kev rho npe, koj yeej tsis paub tias leej twg yuav tau txais nws.

Cov kws kho mob kuaj mob li cas?

Kev kuaj mob cov mob no yuav nyuaj me ntsis, vim tias cov tsos mob sib txawv.

Rau cov menyuam yaus , cov kws kho mob feem ntau pib nrog "kev mus ntsib menyuam yaus zoo" ntawm lub tsev kho mob menyuam yaus zoo . Nyob ntawd, tus kws kho mob nug koj (niam txiv) txog koj tus menyuam cov tsos mob thiab xyuas seb koj tus menyuam puas ua tau raws li " cov ntsiab lus tseem ceeb ntawm kev loj hlob ntawm menyuam yaus" (piv txwv li, seb lawv puas ua tej yam uas tsim nyog rau lawv lub hnub nyoog, xws li luag nyav, nkag, thiab taug kev).

Cov tsos mob ntawm cov neeg laus yuav tshwm sim tom qab hauv lub neej. Txawm tias yog li ntawd los, koj tus kws kho mob yuav nug koj txog koj cov tsos mob thiab ua kev kuaj lub cev.

Yog tias tus kws kho mob xav tias muaj tus kab mob neurocutaneous syndrome, nws yuav pom zoo kom kuaj ntau yam ntxiv.

Cov kev kuaj mob twg siv los kuaj mob no?

Feem ntau cov kws kho mob siv cov kev kuaj ntshav thiab ntau yam kev kuaj duab los kuaj mob cov mob no. Koj tus kws kho mob yuav pom zoo kom kuaj cov no:

• Kev kuaj CT
• EEG (Electroencephalogram - EEG): Qhov no kuaj xyuas kev ua haujlwm hluav taws xob ntawm lub hlwb, tshwj xeeb tshaj yog los xyuas seb puas muaj mob xws li qaug dab peg.
• Kev kuaj hauv chaw kuaj mob : Cov no tuaj yeem yog kev kuaj ntshav lossis zis.
• Kev kuaj MRI (MRI)
• Kev kuaj tawv nqaij los yogKev kuaj mob qog nqaij hlav: Qhov no suav nrog kev coj ib qho qauv me me ntawm daim tawv nqaij lossis lub qog thiab kuaj xyuas nws hauv qab lub tshuab microscope.

Raws li cov ntaub ntawv tau los ntawm cov kev kuaj no, tus kws kho mob tuaj yeem kuaj mob tau zoo.

Cov kab mob neurocutaneous no kho li cas?

Qhov tseem ceeb, tseem tsis tau muaj kev kho mob uas tuaj yeem kho tau qhov mob neurocutaneous syndrome no tag nrho .

Qhov no yuav zoo li tu siab, tab sis tsis txhob tso tseg kev cia siab. Txawm hais tias cov mob no kho tsis tau, cov tsos mob uas tshwm sim tuaj yeem kho tau . Yog tias muaj mob vim yog lub qog, muaj mob qaug dab peg, muaj teeb meem ntawm daim tawv nqaij, thiab lwm yam, kev kho mob raug muab rau txhua yam tsos mob.

Lub hom phiaj tseem ceeb ntawm kev kho mob yog kom tus neeg mob lub neej zoo tshaj plaws thiab tswj tau qhov tshwm sim ntawm cov teeb meem.

Yog tias kuv tus menyuam muaj tus mob no, kuv yuav pab nws li cas?

Ua ib tug niam txiv, tej zaum koj yuav muaj ntau yam kev xav thaum koj pom tias koj tus menyuam muaj tus kab mob neurocutaneous syndrome. Qhov ntawd yog ib txwm muaj. Qhov tseem ceeb tshaj plaws yog tias cov menyuam no yuav xav tau kev saib xyuas tshwj xeeb thiab kev saib xyuas kho mob thoob plaws lawv lub neej . Tham nrog koj tus kws kho mob kom paub meej tias yuav saib xyuas koj tus menyuam cov tsos mob li cas. Xav txog cov no thiab:

• Mus ntsib cov kws tshwj xeeb uas koj tus kws kho mob pom zoo.
• Tau txais kev kuaj mob qog noj ntshav raws sijhawm.
• Yog koj tus menyuam muaj cov tsos mob tshiab , qhia rau kws kho mob tam sim ntawd.

Nyob nrog cov mob no yuav nyuaj, tab sis nrog kev qhia kho mob zoo thiab kev saib xyuas zoo, cov teeb meem ntawd yuav kov yeej tau.

Yog tias kuv tus menyuam muaj tus mob no, nws yuav tsum mus ntsib kws kho mob twg?

Ib tug me nyuam uas muaj tus kab mob neurocutaneous syndrome yuav xav tau kev pab los ntawm ntau tus kws kho mob tshwj xeeb. Koj tus kws kho mob hauv tsev neeg tuaj yeem npaj rau koj ntsib cov kws kho mob tshwj xeeb no. Cov kws kho mob tshwj xeeb uas feem ntau xav tau yog:

• Kws Kho Mob Pob Ntseg : Rau cov teeb meem pob ntseg.
• Kws Kho Mob Tawv Nqaij : Rau cov teeb meem ntawm daim tawv nqaij.
• Kws Kho Mob Hlwb : Rau cov teeb meem ntsig txog lub paj hlwb.
• Kws Kho Mob Qhov Muag : Rau cov teeb meem ntsig txog kev pom kev.

Yog nrog kev txhawb nqa ntawm txhua tus neeg no uas txoj kev npaj kho mob zoo tshaj plaws rau tus menyuam tuaj yeem tsim tau.

Yog tias kuv lossis kuv tus menyuam muaj tus mob no, kuv yuav tsum xav li cas?

Yog tias koj lossis koj tus menyuam muaj tus kab mob neurocutaneous syndrome, koj yuav tsum mus ntsib kws kho mob tsis tu ncua.Tej zaum koj yuav tsum mus. Cov no yog ua los xyuas seb puas muaj kev loj hlob ntawm cov qog lossis kev hloov pauv ntawm koj cov tsos mob. Tham nrog koj tus kws kho mob txog yam koj yuav tsum tau xav txog raws li koj tus mob neurocutaneous syndrome.

Puas kho tau tus mob neurocutaneous syndrome no?

Tsis yog, zoo li peb tau hais ua ntej lawm, tsis muaj kev kho rau tus kab mob neurocutaneous no. Txawm li cas los xij, koj pab neeg kho mob tuaj yeem pab koj tswj cov tsos mob uas cuam tshuam rau koj lossis koj tus menyuam. Yog li, tsis txhob poob kev cia siab.

Puas muaj ib txoj kev los tiv thaiv cov xwm txheej no?

Cov kab mob neurocutaneous no tsis tuaj yeem tiv thaiv tau vim tias lawv yog los ntawm kev hloov pauv caj ces. Txawm li cas los xij, kev kuaj caj ces thiab kev sab laj ua ntej cev xeeb tub tuaj yeem pab koj nkag siab seb koj puas muaj feem yuav kis tau qhov txawv txav caj ces rau koj tus menyuam.

Kuv yuav paub li cas yog tias kuv muaj feem yuav mob no?

Yog tias ib tug neeg hauv koj tsev neeg muaj tus kab mob neurocutaneous syndrome, koj (lossis koj tus menyuam) yuav muaj feem yuav mob cov mob no ntau dua me ntsis . Yog li ntawd, yog tias ib tug neeg hauv koj tsev neeg muaj tus kab mob no, qhia rau koj tus kws kho mob. Koj tus kws kho mob tuaj yeem pom zoo kom kuaj xyuas cov noob caj noob ces kom paub seb puas muaj kev hloov pauv noob caj noob ces, yog tias tsim nyog.

Thaum kawg, cov lus coj mus tsev

Cov mob neurocutaneous syndromes yog cov mob caj ces uas tuaj yeem cuam tshuam rau koj lub paj hlwb, daim tawv nqaij, thiab lwm yam kabmob. Nws yog ib qho ib txwm muaj uas yuav ntshai thiab ntxhov siab thaum koj paub tias koj muaj tus mob no.

Qhov tseem ceeb yog kom paub tias koj tsis nyob ib leeg. Kev txheeb xyuas koj hom mob neurocutaneous syndrome thiab nrhiav pab pawg kws kho mob uas tshwj xeeb hauv kev kho nws yog txoj hauv kev zoo tshaj plaws los xyuas kom meej tias koj tau txais kev saib xyuas zoo tshaj plaws thiab kev kho mob zoo.

Vam tias cov ntaub ntawv no yuav pab tau koj. Yog tias koj muaj lus nug dab tsi, tsis txhob yig los tham nrog koj tus kws kho mob. Nyob kom noj qab nyob zoo!

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