Dɛn ne Gorlin Syndrome? Mma ɛnhaw wo, momma yɛnka ho asɛm nkɔ akyiri!

So woahyɛ no nsow pɛn sɛ nsensanee anaa akuru foforo ba wo honam ani bere nyinaa? Anaasɛ woate akuru a ɛnyɛ yaw wɔ wo hwene dompe so ho asɛm? Ebia eyinom yɛ nea ɛfata. Nanso, wɔ nsɛm a ɛntaa nsi mu no, ebia saa sɛnkyerɛnne ahorow yi fa awosu mu tebea bi a ɛntaa nsi ho. Ɛno ne tebea a yɛrebɛka ho asɛm nnɛ, a wɔfrɛ no Gorlin Syndrome. Mma wo ho nnsuro sɛ wote saa din yi a. Momma yɛnka ho asɛm tiawa, wɔ ɔkwan a wubetumi ate ase so.

Dɛn ankasa ne Gorlin Syndrome?

Sɛ yɛbɛka no tiawa a, Gorlin yare no yɛ awosu mu yare a ɛntaa nsi koraa . Wɔde din afoforo nso frɛ no, te sɛ `(Basal Cell Nevus Syndrome)`, `(Nevoid Basal Cell Carcinoma Syndrome - NBCCS)` ne `(Gorlin-Goltz Syndrome)`. Obi a ɔwɔ saa tebea yi wɔ asiane a ɛkɔ soro sɛ obenya kokoram ne nea ɛnyɛ kokoram (a ɛkyerɛ sɛ ɛrempira nipadua no kɛse) nyinaa. Titiriw no, asiane a ɛkɔ soro sɛ obi benya honam ani kokoram bi a wɔfrɛ no `(Basal Cell Carcinoma)` . Eyi ne honam ani kokoram a abu so sen biara.

Fa no sɛ, awosu mu nkwaadɔm bi wɔ yɛn nipadua mu, a ne dwumadi titiriw ne sɛ ɛbɛhwɛ nkwammoaa mu mpaapaemu a ɛho nhia ne akisikuru a ɛba no so. Yɛsan frɛ eyinom ``tumor suppressor genes``. Enti, wɔ Gorlin syndrome mu no, nea ɛba ne sɛ nsakrae bi ba, kyerɛ sɛ, ``mutation``, wɔ saa awosu mu nkwaadɔm yi mu biako mu. Eyi nti na asiane a ɛwɔ hɔ sɛ obi benya akisikuru no kɔ soro sɛnea yɛaka no.

Nea ɛho hia sen biara ne sɛ wonnya nnyaa Gorlin yare no ano aduru pɔtee biara . Nanso mma ɛnhaw wo! Sɛ wudi wo duruyɛfo akwankyerɛ akyi yiye, na sɛ wohu nneɛma te sɛ kokoram na wɔsa no ntɛm a , obi a ɔwɔ saa tebea yi betumi atra ase sɛnea ɛsɛ. Ɛho nhia sɛ ɛka wo nkwa nna anaa w’asetra pa.

Saa tebea yi abu so dɛn?

Gorlin syndrome yɛ tebea a ɛntaa nsi koraa . Abenfo ka sɛ wɔ ɔman te sɛ United States mpo mu no, saa tebea yi ka nnipa a wonnu 50,000. Nanso, ebia dodow yi bɛboro saa koraa. Nea enti a ɛte saa ne sɛ nnipa binom wɔ sɛnkyerɛnne ahorow a emu nyɛ den araa ma wonnim mpo sɛ wɔwɔ saa tebea yi. Mpɛn pii no, sɛnkyerɛnne ahorow no da adi wɔ mmabun anaa mmerante ne mmabaa a wɔadu mpanyin afe so mu .

Dɛn ne Gorlin Syndrome ho sɛnkyerɛnne ahorow?

Saa tebea yi ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho, nanso sɛnkyerɛnne ahorow bi wɔ hɔ a ɛtaa ba:

Nneɛma a wotumi hu titiriw

• Multiple basal cell carcinomas: Saa honam ani kokoram yi taa ba mmeae a owia bɔ te sɛ anim ne kɔn mu. Nanso, wɔ nnipa a wɔwɔ Gorlin yare no mu no, eyinom betumi anya nkɔso wɔ wɔn mmofraase, wɔ wɔn mmabunbere awiei anaa wɔn mfe aduonu mfiase mu .
• Keratocysts a ɛma ntini no yɛ kɛse:Eyinom yɛ nneɛma a enyin a ɛnyɛ yaw a ɛnyɛ kokoram a ɛba wɔ anom dompe no mu. Wɔtaa ba mmofra ne mmerante ne mmabaa a wɔadu mpanyin afe so a wɔwɔ Gorlin yare no mu.
• Amena nketewa anaasɛ abon a ɛwɔ anan ne nan ase: Wɔtaa hu saa ade yi wɔ mfe 20 mu. Eyinom yɛ nea ɛtra hɔ daa.
• Nnompe mu nsakrae: Yetumi hu nsakrae bi wɔ ɔkwan a wɔfa so yɛ mpampam ne akyi berɛmo no mu.

Nsɛnkyerɛnne a ɛntaa nsi

Ɛnyɛ obiara na obenya saa sɛnkyerɛnne ahorow yi, nanso ebia nnipa binom benya:

• Amemene mu akisikuru: Eyinom betumi ayɛ kokoram (medulloblastoma) anaasɛ ɛnyɛ kokoram (meningioma).
• Koma anaa awotwaa mu nhama: Eyinom yɛ akisikuru a ɛnyɛ kokoram, na mpɛn pii no ɛnyɛ asiane biara.
• Aniwa mu haw: nneɛma te sɛ strabismus, nystagmus, ne aniwa a ɛyɛ mmerɛw.
• Nsakrae a emu yɛ den a ɛba nnompe mu: Sɛ nhwɛso no, akyi berɛmo no ntumi nhyehyɛ koraa (spina bifida).
• Anim a ɛnyɛ ne kwan so: Aniwa no ntam kwan a ɛkɔ soro (hypertelorism), awo a wɔde anofafa/anom apaapae, ne nsensanee fitaa nketenkete (milia) wɔ n’anim.
• Ti a ɛsõ sen sɛnea ɛte daa (macrocephaly).
• Adwene mu dɛmdi ahorow.
• Epileptic tebea horow `(Akisikuru)`.

Dɛn na ɛde Gorlin Syndrome ba?

Sɛnea yɛaka ho asɛm dedaw no, nsakrae a ɛba yɛn awosu mu nkwaadɔm mu na ɛde tebea yi ba. Sɛ yɛbɛka no pɛpɛɛpɛ a, awosu mu nkwaadɔm abiɛsa na ɛwɔ yɛn nipadua mu a ɛma akisikuru (tumor suppressor genes) ntumi nkɔ. Wɔn ne awosu mu nkwaadɔm a wɔfrɛ no ``PTCH1`` (eyi ne nea ɛtaa ka ho), ``PTCH2`` ne ``SUFU``. Sɛ saa awosu mu nkwaadɔm yi ntumi nyɛ adwuma yiye a, nkwammoaa bi fi ase nyin wɔ ɔkwan a ɛnteɛ so. Ɛno na ɛde sɛnkyerɛnne te sɛ akisikuru ba.

Nnipa dodow no ara nya saa awosu mu nkwaadɔm mu nsakrae yi fi wɔn awofo hɔ. Nanso, wɔ tebea horow bi mu no, saa awosu mu nkwaadɔm mu nsakrae yi betumi aba kwa ansa na wɔawo, a abusua abakɔsɛm biara nni mu.

Saa awosu mu nsakrae yi fi awo mu wɔ "autosomal dominant" nhyehyɛe mu . Sɛ yɛbɛka no tiawa a, wunya awosu mu abɔde a ɛfata fi ɔwofo biako hɔ na wunya awosu mu nkwaadɔm a wɔayɛ no foforo fi ɔfoforo hɔ. Ɛsɛ sɛ wunya PTCH anaa SUFU awosu mu nkwaadɔm mu nsakrae no na ama woanya Gorlin yare no.

Nyansahufo ka sɛ sɛ wɔsakra awosu mu abɔde a ɛma akisikuru no yɛ nea ɛfata no wɔ ɔkwan bi so nkutoo a, na obi a ɔwɔ Gorlin yare no nya kokoram. Sɛ nhwɛso no, nneɛma a owia hann sɛe ade no betumi ama awosu mu abɔde pa no asakra. Afei, awosu abien no nyinaa ntumi nyɛ adwuma yiye, na wontumi nsiw akisikuru no ano. Eyi na ɛde honam ani kokoram ba. Na sɛ nipadua no mu nkwammoaa afoforo sɛe wɔ saa kwan yi so a, kokoram ahorow afoforo betumi anya.

Ɔkwan bɛn so na nnuruyɛfo hu saa tebea yi?

Sɛ wopɛ sɛ wuhu Gorlin syndrome a, wo duruyɛfo bɛyɛ nea edidi so yi:

• Nipadua mu nhwehwɛmu: Hwɛ sɛ ebia honam ani kokoram anaa.
• Mfoniniyɛ mu nhwehwɛmu: Hwɛ sɛ akisikuru, fibromas, anaa nnompe mu haw ahorow wɔ anom dompe no mu (e.g., X-ray, CT scan, MRI scan).
• Biopsy: Adeyɛ a wɔfa so yi ntini ketewaa bi fi honam ani anaa akuru bi mu na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu hwɛ sɛ kokoram nkwammoaa wɔ mu anaa.
• Awosu mu nhwehwɛmu: Wɔfa mogya de hwɛ sɛ wowɔ awosu mu nsakrae bi a ɛne Gorlin yare no wɔ abusuabɔ anaa.

Dɛn ne nnuru a wɔde sa Gorlin Syndrome?

Ɛwom sɛ wonni aduru pɔtee biara a wɔde sa Gorlin yare no ankasa de, nanso sɛ wunya akisikuru a ɛyɛ kokoram anaasɛ ɛde ɔhaw afoforo ba a, ebia ebehia sɛ wosa. Nhwɛsoɔ:

• Wobetumi de oprehyɛn ayi honam ani kokoram anaa anom nnompe mu akisikuru afi hɔ .
• Wobetumi de kokoram ayaresa afoforo te sɛ aduru a wɔde gu nipadua no so anaasɛ photodynamic therapy nso adi dwuma de asɛe kokoram nkwammoaa.

Esiane sɛ asiane a ɛwɔ hɔ sɛ wubenya kokoram kɛse nti, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ fa aduru pa a ɛbɔ wo ho ban fi owia ho di dwuma, hyɛ ntade a nsa tenten, na wohyɛ kyɛw bere a worebɔ owia no. Afei nso, bere a ɛho hia koraa nkutoo na wɔyɛ nhwehwɛmu te sɛ X-ray. Mpɛn pii no, kokoram ho animdefo kwati sɛ wɔde mframa a wɔde sa yare bɛma nnipa a wɔwɔ Gorlin yare no sɛ kokoram ayaresa. Nea enti a ɛte saa ne sɛ mframa a ano yɛ den betumi ama asiane a ɛwɔ hɔ sɛ obi benya kokoram no ayɛ kɛse.

So wobetumi asiw Gorlin Syndrome ano?

Yɛrentumi nni awosu mu nkwaadɔm a wɔde awo yɛn no so. Enti, ɔkwan biara nni hɔ a wɔbɛfa so asiw Gorlin yare no ano. Nanso, wubetumi atew asiane a ɛwɔ hɔ sɛ wubenya honam ani kokoram no so denam nneɛma a wobɛyɛ de asiw ano no so . Afei nso, sɛ wokɔ aduruyɛ mu nhwehwɛmu daa a, wubetumi ahu kokoram ntɛm. Afei ɛyɛ mmerɛw sɛ wɔbɛsa.

Sɛ wowɔ Gorlin syndrome (anaasɛ sɛ obi a ɔwɔ w’abusua mu wɔ bi) na woreyɛ nhyehyɛe sɛ wobɛwo mma na ɛhaw wo sɛ ebia wo ba no benya bi a, kɔ awosu ho ɔfotufo bi nkyɛn . Wɔbɛkyerɛkyerɛ asiane ahorow mu akyerɛ wo ne wo hokafo.

Ɔkwan bɛn so na daakye bɛyɛ ama obi a ɔte saa tebea yi mu? (Nsusuwii) .

Nnipa pii di Gorlin yare no ho dwuma denam nneɛma a wɔyɛ de siw honam ani kokoram ano ne aduruyɛ mu nhwehwɛmu a wɔyɛ daa no so. Ɛdenam kokoram ho nhwehwɛmu a wobɛyɛ daa sɛnea wo duruyɛfo kamfo kyerɛ so no, wobetumi ahu ɔhaw biara ntɛm . Nnipa a wɔwɔ Gorlin syndrome betumi atra ase akyɛ na wɔn a wonni tebea no nso betumi atra ase te sɛ nnipa a wonni tebea no.

Afei nso, ade a ɛho hia sen biara a ɛsɛ sɛ yɛkae ne sɛ ɛnyɛ obiara a ɔwɔ Gorlin syndrome na obenya kokoram anaasɛ obenya ɔhaw koro no ara. Ɛsono nnipa biara. Wo duruyɛfo begyina wo yare no ho sɛnkyerɛnne so atu wo fo wɔ wo tebea no ho.

Mɛyɛ dɛn ahwɛ me ho? (Ne ho a wɔhwɛ) .

Sɛ wowɔ Gorlin syndrome a, ɛsɛ sɛ woyɛ nneɛma titiriw yi de siw honam ani kokoram ano:

• Kwati sɛ wode mpa a wɔde hyɛ wo honam ani hwɛbea bedi dwuma.
• Tra dan mu sɛnea wubetumi wɔ bere a owia bɔ kɛse (10 a.m. kosi 4 p.m.).
• Hyɛ aduru a ɛbɔ wo ho ban fi owia ho a ɛtrɛw a anyɛ yiye koraa no SPF 30 wom da biara. San fa di dwuma mpɛn pii.
• Sɛ worekɔ abɔnten a, hyɛ ntade a ɛbɔ UV ho ban ne kyɛw a ano trɛw.

Ɛho behia nso sɛ wokɔ nnuruyɛfo ahorow nkyɛn kɔhwɛ sɛ ebia wowɔ kokoram ne tebea afoforo. Mpɛn dodow a ɛsɛ sɛ wokɔ no begyina sɛ ebia wobehu akisikuru anaa nneɛma afoforo a ɛnteɛ so. Ebia oduruyɛfo nsrahwɛ ahorow yi bi ne:

• Ma oduruyɛfo a ɔhwɛ honam ani yare no nhwɛ wo honam ani.
• Nsõ mu nhwehwɛmu ne mfoniniyɛ mu nhwehwɛmu de hwɛ sɛ akisikuru bi wɔ anom dompe no mu anaa.
• Mfoninitwa nhwehwɛmu de hwɛ sɛ ebia fibromas, amemene mu akisikuru, anaa aniwa mu haw bi wɔ hɔ anaa.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wususuw sɛ wo anaa wo ba wɔ basal cell carcinoma a, kɔ oduruyɛfo nkyɛn ntɛm ara . Eyi ne Gorlin yare no ho sɛnkyerɛnne a ɛtaa ba. Sɛnea ɛte wɔ honam ani kokoram ahorow afoforo ho no, hwɛ yiye wɔ akisikuru anaa nsensanee foforo biara a ɛkɔ so tra hɔ, anaasɛ ɛrenyin ho.

Mpɛn pii no, honam ani kokoram ne Gorlin yare no nni abusuabɔ, nanso ɛmfa ho nea ɛde ba no, ɛho hia sɛ wɔyɛ ho nhwehwɛmu.

Nsɛm bɛn na ɛsɛ sɛ wubisa oduruyɛfo no?

Sɛ wohu sɛ wowɔ Gorlin syndrome a, ebia wobɛpɛ sɛ wubisa wo duruyɛfo nsɛm yi:

• Kokoram ho sɛnkyerɛnne bɛn na ɛsɛ sɛ mehu?
• Mpɛn ahe na ebehia sɛ wɔyɛ me kokoram ho nhwehwɛmu?
• Dɛn na metumi ayɛ na ama kokoram ho asiane a ɛwɔ hɔ no so atew?
• So mehia ayaresa ama akisikuru a ɛnyɛ kokoram?
• Hokwan ahorow bɛn na ɛwɔ hɔ sɛ mɛwo abofra a ɔwɔ Gorlin syndrome?

Gorlin yare no de nsɛnnennen pii ba a ebia nnipa a wonni tebea no renhyia. Sɛ wowɔ NBCCS a, ɛsɛ sɛ wo ne w’aduruyɛfo kuw no ma w’ani da hɔ titiriw wɔ basal cell carcinoma biara a ɛba no a wobehu na wɔasa no mu.

Nkrasɛm a Etwa To a Wɔde Kɔ Fie

Asɛmpa no ne sɛ sɛ wɔsa basal cell carcinomas ntɛm a, wotumi sa koraa. Afei nso, mpɛn pii no, akisikuru a ɛnyɛ kokoram no mfa ɔhaw mma. Sɛ wɔyɛ saa a, oduruyɛfo betumi ayi afi hɔ anaa akamfo ayaresa afoforo akyerɛ. Wubetumi atra ase akyɛ na woanya Gorlin yare no. Enti, mma wo ho nnyɛ wo hu, na mmom hwɛ yiye. Di aduruyɛ mu afotu a ɛfata akyi, na biribiara bɛyɛ yiye!

` Gorlin syndrome, NBCCS, basal cell carcinoma, awosu mu nyarewa, honam ani kokoram, honam ani yare