Gorlin Syndrome yog dab tsi? Tsis txhob txhawj, cia peb tham txog nws kom meej!

Koj puas tau pom cov pob tshiab lossis cov pob uas tsim tsis tu ncua ntawm koj daim tawv nqaij? Los yog koj puas tau hnov ​​txog cov pob uas tsis mob ntawm koj lub puab tsaig? Tej zaum cov no yog ib txwm muaj. Txawm li cas los xij, qee zaum, cov tsos mob no yuav muaj feem cuam tshuam nrog ib qho mob caj ces tsis tshua muaj. Qhov ntawd yog qhov mob uas peb yuav tham txog hnub no, hu ua Gorlin Syndrome. Tsis txhob ntshai thaum koj hnov ​​lub npe no. Cia peb tham txog nws yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab.

Gorlin Syndrome yog dab tsi tiag?

Hais yooj yim xwb, Gorlin syndrome yog ib yam mob caj ces uas tsis tshua muaj . Nws kuj tseem muaj lwm lub npe hu ua `(Basal Cell Nevus Syndrome)`, `(Nevoid Basal Cell Carcinoma Syndrome - NBCCS)` thiab `(Gorlin-Goltz Syndrome)`. Ib tug neeg uas muaj tus mob no muaj feem yuav mob qog nqaij hlav thiab qog nqaij hlav uas tsis yog qog nqaij hlav (txhais tau tias, tsis ua rau lub cev puas tsuaj ntau). Tshwj xeeb, muaj feem yuav mob qog nqaij hlav uas hu ua `(Basal Cell Carcinoma)` . Qhov no yog hom qog nqaij hlav uas feem ntau mob.

Xav txog seb, muaj qee cov noob caj noob ces hauv peb lub cev, uas nws lub luag haujlwm tseem ceeb yog tswj kev faib cov cell tsis tsim nyog thiab kev tsim cov qog nqaij hlav. Peb kuj hu cov no "cov noob caj noob ces tiv thaiv qog nqaij hlav". Yog li, hauv Gorlin syndrome, qhov tshwm sim yog tias muaj kev hloov pauv, uas yog, "kev hloov pauv", hauv ib qho ntawm cov noob caj noob ces no. Qhov no yog vim li cas qhov kev pheej hmoo ntawm kev tsim cov qog nqaij hlav nce ntxiv raws li tau hais.

Qhov tseem ceeb tshaj plaws yog tias tseem tsis tau muaj kev kho mob tshwj xeeb rau Gorlin syndrome . Tab sis tsis txhob txhawj! Yog tias koj ua raws li koj tus kws kho mob cov lus qhia kom raug, thiab yog tias cov yam xws li mob qog noj ntshav raug kuaj pom thiab kho thaum ntxov , ib tus neeg uas muaj tus mob no tuaj yeem ua neej nyob ib txwm. Nws tsis tas yuav cuam tshuam rau koj lub neej lossis lub neej zoo.

Tus mob no feem ntau tshwm sim li cas?

Kab mob Gorlin syndrome yog ib yam mob tsis tshua muaj . Cov kws tshaj lij hais tias txawm tias nyob hauv lub tebchaws zoo li Tebchaws Meskas, tus mob no cuam tshuam rau tsawg dua 50,000 tus neeg. Txawm li cas los xij, tus lej no yuav ntau dua. Qhov laj thawj yog vim qee tus neeg muaj cov tsos mob me me uas lawv tsis paub tias lawv muaj tus mob no. Feem ntau, cov tsos mob tshwm sim rau cov tub ntxhais hluas lossis cov tub ntxhais hluas .

Cov tsos mob ntawm Gorlin Syndrome yog dab tsi?

Cov tsos mob ntawm tus mob no yuav txawv ntawm ib tus neeg mus rau ib tus neeg, tab sis muaj qee cov tsos mob uas pom ntau:

Cov yam ntxwv pom tseeb tshaj plaws

• Ntau hom mob qog nqaij hlav basal cell carcinomas: Hom mob qog nqaij hlav no feem ntau tshwm sim rau ntawm thaj chaw uas raug tshav ntuj xws li lub ntsej muag thiab caj dab. Txawm li cas los xij, rau cov neeg uas muaj Gorlin syndrome, cov no tuaj yeem tshwm sim thaum lawv tseem hluas, thaum lawv tseem hluas lossis thaum lawv tseem hluas .
• Cov tsos mob ntawm cov kab mob odontogenic keratocysts:Cov no yog cov qog nqaij hlav uas tsis mob, tsis yog mob qog nqaij hlav uas tsim nyob rau hauv lub puab tsaig. Feem ntau lawv tshwm sim rau cov menyuam yaus thiab cov hluas uas muaj tus kab mob Gorlin syndrome.
• Cov qhov me me lossis qhov poob ntawm xib teg thiab hauv qab taw: Qhov no feem ntau pom muaj nyob rau hauv xyoo 20s. Cov no yog tas mus li.
• Kev hloov pauv ntawm pob txha: Qee qhov kev hloov pauv tuaj yeem pom hauv txoj kev uas cov tav thiab tus txha nqaj qaum tau tsim.

Cov tsos mob tsawg dua

Tsis yog txhua tus neeg yuav muaj cov tsos mob no, tab sis qee tus neeg yuav muaj cov tsos mob no:

• Cov qog hauv hlwb: Cov no tuaj yeem yog mob qog noj ntshav (medulloblastoma) lossis tsis yog mob qog noj ntshav (meningioma).
• Cov fibromas ntawm lub plawv lossis zes qe menyuam: Cov no yog cov qog nqaij hlav uas tsis yog mob qog noj ntshav, feem ntau yog cov qog nqaij hlav tsis muaj teeb meem.
• Teeb meem ntawm qhov muag: tej yam xws li strabismus, nystagmus, thiab cataracts.
• Kev hloov pauv loj heev hauv cov pob txha: Piv txwv li, tsis muaj tus txha nqaj qaum kiag li (spina bifida).
• Cov yam ntxwv txawv txav ntawm lub ntsej muag: Qhov deb ntawm ob lub qhov muag nce ntxiv (hypertelorism), yug los nrog daim di ncauj/qab nthab tawg, thiab cov pob me me dawb (milia) ntawm lub ntsej muag.
• Lub taub hau loj dua li qub (macrocephaly).
• Kev tsis taus ntawm kev txawj ntse.
• Cov xeev qaug dab peg '(Qaug dab peg)'.

Dab tsi ua rau muaj Gorlin Syndrome?

Raws li peb tau tham txog lawm, qhov mob no yog tshwm sim los ntawm kev hloov pauv hauv peb cov noob caj noob ces. Yog xav kom meej, muaj peb cov noob caj noob ces hauv peb lub cev uas tiv thaiv kev tsim cov qog nqaij hlav (cov noob caj noob ces tiv thaiv qog nqaij hlav). Lawv yog cov noob caj noob ces hu ua "PTCH1" (qhov no yog qhov feem ntau koom nrog), "PTCH2" thiab "SUFU". Thaum cov noob caj noob ces no tsis ua haujlwm zoo, qee cov cell pib loj hlob tsis zoo. Qhov ntawd yog qhov ua rau muaj cov tsos mob xws li qog nqaij hlav.

Feem ntau cov neeg tau txais qhov kev hloov pauv ntawm cov noob caj noob ces no los ntawm lawv niam lawv txiv. Txawm li cas los xij, qee zaum, qhov kev hloov pauv ntawm cov noob caj noob ces no tuaj yeem tshwm sim ua ntej yug los, yam tsis muaj keeb kwm tsev neeg.

Qhov kev hloov pauv caj ces no yog tau txais los ntawm ib tug niam txiv los yog ib tug txiv los yog ib tug niam txiv uas muaj tus kab mob "autosomal dominant" . Yog hais yooj yim xwb, koj yuav tau ib tug noob caj ces zoo li qub los ntawm ib tug niam txiv thiab ib tug noob caj ces uas tau hloov pauv los ntawm lwm tus. Koj yuav tsum muaj ib qho kev hloov pauv caj ces PTCH los yog SUFU thiaj li yuav muaj tau tus kab mob Gorlin syndrome.

Cov kws tshawb fawb hais tias ib tug neeg uas muaj tus kab mob Gorlin syndrome tsuas yog muaj mob qog noj ntshav yog tias daim qauv ntawm cov noob caj noob ces tiv thaiv qog noj ntshav hloov pauv qee yam. Piv txwv li, kev puas tsuaj los ntawm lub hnub ci tuaj yeem ua rau cov noob caj noob ces zoo hloov pauv. Tom qab ntawd, ob qho noob caj noob ces tsis ua haujlwm zoo, thiab cov qog noj ntshav tsis tuaj yeem raug nres. Qhov no yog qhov ua rau mob qog noj ntshav ntawm daim tawv nqaij. Thiab yog tias lwm cov cell hauv lub cev raug puas tsuaj li no, lwm hom qog noj ntshav tuaj yeem tshwm sim.

Cov kws kho mob kuaj mob li cas?

Yuav kom kuaj tau Gorlin syndrome, koj tus kws kho mob yuav ua cov hauv qab no:

• Kev kuaj lub cev: Tshawb xyuas seb puas muaj mob qog nqaij hlav.
• Kev kuaj duab: Tshawb xyuas seb puas muaj qog nqaij hlav, cov fibromas, lossis teeb meem pob txha hauv lub puab tsaig (piv txwv li, X-ray, CT scan, MRI scan).
• Kev kuaj mob los ntawm lub cev: Ib txoj kev kho mob uas muab ib daim nqaij me me ntawm daim tawv nqaij lossis ib lub qog thiab kuaj hauv qab lub tshuab microscope kom pom tias nws puas muaj cov hlwb qog noj ntshav.
• Kev kuaj noob caj noob ces: Yuav muab cov ntshav coj mus kuaj seb koj puas muaj kev hloov pauv noob caj noob ces uas cuam tshuam nrog Gorlin syndrome.

Cov kev kho mob rau Gorlin Syndrome yog dab tsi?

Txawm hais tias tsis muaj kev kho mob tshwj xeeb rau Gorlin syndrome nws tus kheej, yog tias koj muaj cov qog nqaij hlav uas yog mob qog noj ntshav lossis ua rau muaj teeb meem lwm yam, koj yuav tsum tau kho lawv. Piv txwv li:

• Mob qog nqaij hlav ntawm daim tawv nqaij lossis qog ntawm lub puab tsaig tuaj yeem raug tshem tawm nrog kev phais .
• Lwm yam kev kho mob qog noj ntshav, xws li cov tshuaj pleev rau sab nraud lossis kev kho mob photodynamic, kuj siv tau los rhuav tshem cov hlwb qog noj ntshav.

Vim tias koj muaj feem yuav mob qog noj ntshav ntau dua, koj tus kws kho mob yuav pom zoo kom koj siv tshuaj pleev thaiv hnub zoo, hnav khaub ncaws ntev, thiab hnav lub kaus mom thaum koj nyob hauv lub hnub. Tsis tas li ntawd, kev kuaj xws li X-rays tsuas yog ua thaum tsim nyog xwb. Feem ntau, cov kws kho mob qog noj ntshav zam kev muab kev kho mob hluav taws xob ua kev kho mob qog noj ntshav rau cov neeg uas muaj Gorlin syndrome. Qhov no yog vim tias kev siv hluav taws xob tuaj yeem ua rau muaj feem yuav mob qog noj ntshav ntau dua.

Puas tiv thaiv tau Gorlin Syndrome?

Peb tswj tsis tau cov noob caj noob ces uas peb yug los nrog. Yog li ntawd, tsis muaj txoj hauv kev los tiv thaiv Gorlin syndrome. Txawm li cas los xij, koj tuaj yeem txo koj txoj kev pheej hmoo ntawm kev mob qog nqaij hlav los ntawm kev ua cov kauj ruam los tiv thaiv nws . Tsis tas li ntawd, los ntawm kev mus kuaj mob tsis tu ncua, koj tuaj yeem kuaj pom mob qog nqaij hlav thaum ntxov. Tom qab ntawd nws yooj yim dua los kho.

Yog koj muaj tus kab mob Gorlin syndrome (lossis yog tias muaj ib tug neeg hauv koj tsev neeg muaj tus kab mob no) thiab koj npaj yuav muaj menyuam thiab txhawj xeeb tias koj tus menyuam yuav tau txais tus kab mob no, mus ntsib tus kws pab tswv yim txog caj ces . Lawv yuav piav qhia txog tej yam txaus ntshai rau koj thiab koj tus khub.

Yav tom ntej yuav zoo li cas rau ib tus neeg uas muaj tus mob no? (Outlook)

Muaj coob tus neeg tswj tau tus kab mob Gorlin syndrome los ntawm kev ua cov kauj ruam los tiv thaiv mob qog nqaij hlav thiab mus kuaj mob tsis tu ncua. Los ntawm kev mus kuaj mob qog nqaij hlav tsis tu ncua raws li koj tus kws kho mob pom zoo, txhua yam teeb meem tuaj yeem raug ntes thaum ntxov . Cov neeg uas muaj tus kab mob Gorlin syndrome tuaj yeem nyob ntev thiab zoo ib yam li cov neeg tsis muaj tus kab mob.

Tsis tas li ntawd xwb, qhov tseem ceeb tshaj plaws uas yuav tsum nco ntsoov yog tias tsis yog txhua tus neeg uas muaj tus kab mob Gorlin syndrome yuav mob qog noj ntshav lossis muaj tib yam teeb meem. Nws txawv ntawm ib tus neeg mus rau ib tus neeg. Koj tus kws kho mob yuav qhia koj txog koj tus mob raws li koj cov tsos mob.

Kuv yuav saib xyuas kuv tus kheej li cas? (Kev saib xyuas tus kheej)

Yog tias koj muaj Gorlin syndrome, koj yuav tsum ua cov kauj ruam tshwj xeeb no los tiv thaiv mob qog nqaij hlav:

• Tsis txhob siv cov txaj pw tanning.
• Nyob hauv tsev ntau li ntau tau thaum lub sijhawm hnub ci ntau tshaj plaws (10 teev sawv ntxov txog 4 teev tsaus ntuj).
• Siv tshuaj pleev thaiv hnub uas muaj zog tsawg kawg yog SPF 30 txhua hnub. Rov siv dua tsis tu ncua.
• Thaum tawm mus sab nraud, hnav khaub ncaws tiv thaiv UV thiab lub kaus mom dav.

Koj tseem yuav tsum tau mus ntsib kws kho mob sib txawv kom kuaj xyuas seb puas muaj mob qog noj ntshav thiab lwm yam mob. Koj yuav tsum mus ntsib kws kho mob ntau npaum li cas nyob ntawm seb lawv puas pom muaj qog nqaij hlav lossis lwm yam tsis zoo. Cov kev mus ntsib kws kho mob no yuav suav nrog:

• Mus ntsib kws kho mob tawv nqaij kom kuaj xyuas koj daim tawv nqaij.
• Kev kuaj hniav thiab kev kuaj duab los xyuas seb puas muaj qog hauv pob txha puab tsaig.
• Kev kuaj duab los xyuas seb puas muaj cov fibromas, qog hauv hlwb, lossis teeb meem pom kev.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog koj xav tias koj lossis koj tus menyuam muaj mob qog nqaij hlav basal cell carcinoma, mus ntsib kws kho mob tam sim ntawd . Qhov no yog cov tsos mob feem ntau ntawm Gorlin syndrome. Ib yam li lwm hom mob qog nqaij hlav ntawm daim tawv nqaij, yuav tsum ceev faj txog cov pob lossis cov pob tshiab, uas nyob ntev, lossis loj hlob tuaj.

Mob qog nqaij hlav ntawm daim tawv nqaij feem ntau tsis cuam tshuam nrog Gorlin syndrome, tab sis txawm tias yog vim li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum tau kuaj mob.

Koj yuav tsum nug tus kws kho mob li cas?

Yog tias koj raug kuaj pom tias muaj Gorlin syndrome, koj yuav xav nug koj tus kws kho mob cov lus nug no:

• Kuv yuav tsum paub txog cov tsos mob ntawm tus mob qog noj ntshav li cas?
• Kuv yuav tsum tau kuaj mob qog noj ntshav ntau npaum li cas?
• Kuv ua tau dab tsi los txo kuv txoj kev pheej hmoo mob qog noj ntshav?
• Kuv puas yuav tsum tau kev kho mob rau cov qog nqaij hlav uas tsis yog mob qog noj ntshav?
• Muaj feem yuav muaj menyuam uas muaj Gorlin syndrome li cas?

Kab mob Gorlin muaj ntau yam teeb meem uas cov neeg uas tsis muaj tus mob no yuav tsis ntsib. Yog tias koj muaj NBCCS, koj thiab koj pab neeg kho mob yuav tsum ceev faj tshwj xeeb hauv kev txheeb xyuas thiab kho cov mob qog nqaij hlav basal cell carcinoma uas tshwm sim.

Cov Lus Xaus Kawg coj mus tsev

Qhov xov xwm zoo yog tias cov qog nqaij hlav basal cell carcinomas kho tau zoo yog tias kho thaum ntxov. Tsis tas li ntawd, cov qog nqaij hlav uas tsis yog qog nqaij hlav feem ntau tsis ua teeb meem. Yog tias lawv ua, tus kws kho mob tuaj yeem tshem tawm lawv lossis pom zoo lwm yam kev kho mob. Koj tuaj yeem nyob ntev thiab muaj lub neej puv npo nrog Gorlin syndrome. Yog li, tsis txhob ntshai, tab sis ceev faj. Ua raws li cov lus qhia kho mob kom zoo, thiab txhua yam yuav zoo!

` Gorlin syndrome, NBCCS, basal cell carcinoma, cov kab mob caj ces, mob qog nqaij hlav ntawm daim tawv nqaij, dermatology