Iyini i-Gorlin Syndrome? Ungakhathazeki, ake sixoxe ngayo ngokuningiliziwe!

Wake waphawula amabala amasha noma amaqhubu akheka njalo esikhumbeni sakho? Noma wake wezwa ngamaqhubu angenabuhlungu ethanjeni lakho lomhlathi? Lokhu kungase kube okuvamile. Kodwa-ke, ezimweni ezingavamile, lezi zimpawu zingase zihlobane nesimo esingavamile sofuzo. Leso yisimo esizokhuluma ngaso namuhla, esibizwa ngokuthi i-Gorlin Syndrome. Ungesabi uma uzwa leli gama. Ake sixoxe ngakho kalula, ngendlela ongayiqonda.

Iyini ngempela i-Gorlin Syndrome?

Kalula nje, i-Gorlin syndrome iyisimo esingavamile kakhulu sofuzo . Yaziwa nangamanye amagama, njenge-`(Basal Cell Nevus Syndrome)`, `(Nevoid Basal Cell Carcinoma Syndrome - NBCCS)` kanye ne-`(Gorlin-Goltz Syndrome)`. Umuntu onalesi simo unengozi enkulu yokuthola izimila ezinomdlavuza kanye nezingenawo umdlavuza (okusho ukuthi, ezingalimazi umzimba kakhulu). Ikakhulukazi, kunengozi enkulu yokuthola uhlobo lomdlavuza wesikhumba olubizwa ngokuthi `(Basal Cell Carcinoma)` . Lolu uhlobo oluvame kakhulu lomdlavuza wesikhumba.

Cabanga nje, kunezakhi zofuzo ezithile emzimbeni wethu, umsebenzi wazo oyinhloko ukulawula ukuhlukaniswa okungadingekile kwamaseli kanye nokwakheka kwezimila. Siphinde sizibize ngokuthi "izakhi zofuzo ezicindezela izicubu". Ngakho-ke, ku-Gorlin syndrome, okwenzekayo ukuthi kukhona ushintsho, okungukuthi, "ukuguqulwa kwezakhi zofuzo" kwenye yalezi zakhi zofuzo. Yingakho ingozi yokuthola izimila ikhula njengoba kushiwo.

Into ebaluleke kakhulu ukuthi ayikho ikhambi eliqondile le-Gorlin syndrome okwamanje . Kodwa ungakhathazeki! Uma ulandela imiyalelo kadokotela wakho kahle, futhi uma izinto ezifana nomdlavuza zitholakala futhi zelashwa kusenesikhathi , umuntu onalesi simo angaphila impilo ejwayelekile. Akudingeki ukuthinta impilo yakho noma ikhwalithi yokuphila.

Sivame kangakanani lesi simo?

I-Gorlin syndrome iyisimo esingavamile kakhulu . Ochwepheshe bathi ngisho nasezweni elifana ne-United States, lesi simo sithinta abantu abangaphansi kuka-50,000. Kodwa-ke, leli nani lingase libe phezulu kakhulu. Isizathu siwukuthi abanye abantu banezimpawu ezincane kangangokuthi abazi nokuthi banalesi simo. Ngokuvamile, izimpawu zivela kubantu abasebasha noma abasebasha .

Ziyini izimpawu ze-Gorlin Syndrome?

Izimpawu zalesi simo zingahluka kuye ngomuntu, kodwa kunezinye izimpawu ezivamile:

Izici ezibonakala kakhulu

• I-Multiple basal cell carcinomas: Lolu hlobo lomdlavuza wesikhumba luvame ukuvela ezindaweni ezivezwe yilanga njengobuso nentamo. Kodwa-ke, kubantu abane-Gorlin syndrome, lokhu kungavela besebancane, besebancane noma besebancane .
• Ama-keratocysts abangela i-Odontogenic:Lezi yizimila ezingenabuhlungu, ezingenamdlavuza ezakheka emhlathini. Zivame kakhulu ezinganeni nakubantu abadala abasebasha abane-Gorlin syndrome.
• Imigodi emincane noma imigoqo ezintendeni nasematheni ezinyawo: Lesi sici sivame ukubonakala ngawo-1920. Lokhu kuhlala njalo.
• Izinguquko zamathambo: Ezinye izinguquko zingabonakala endleleni izimbambo nomgogodla okwakheka ngayo.

Izimpawu ezingavamile

Akuwona wonke umuntu ozobhekana nalezi zimpawu, kodwa abanye abantu bangase babe nazo:

• Izimila zobuchopho: Lezi zingaba umdlavuza (i-medulloblastoma) noma ezingezona umdlavuza (i-meningioma).
• Ama-fibroma enhliziyo noma ama-ovari: Lawa angama-tumors angenawo umdlavuza, ngokuvamile angenangozi.
• Izinkinga zamehlo: izinto ezifana ne-strabismus, i-nystagmus, kanye ne-cataracts.
• Izinguquko ezinkulu emathanjeni: Isibonelo, ukuntuleka komgogodla ngokuphelele (i-spina bifida).
• Izici zobuso ezingavamile: Ibanga elikhudlwana phakathi kwamehlo (hypertelorism), ukuzalwa unomlomo/umlomo oqhekekile, kanye namabala amancane amhlophe (milia) ebusweni.
• Ikhanda elikhulu kunelijwayelekile (i-macrocephaly).
• Ukukhubazeka kwengqondo.
• Izimo zesifo sokuwa `(Ukuquleka)`.

Yini ebangela i-Gorlin Syndrome?

Njengoba sesixoxile kakade, lesi simo sibangelwa ushintsho ezakhiweni zethu zofuzo. Ukuze kube sobala, kunezakhi zofuzo ezintathu emzimbeni wethu ezivimba ukwakheka kwezimila (izakhi zofuzo ezicindezela isimila). Ziyizakhi zofuzo ezibizwa ngokuthi ``PTCH1`` (lena yiyo evame ukuhileleka), ``PTCH2`` kanye ``SUFU``. Uma lezi zakhi zofuzo zingasebenzi kahle, amanye amangqamuzana aqala ukukhula ngendlela engavamile. Yilokho okubangela izimpawu ezifana nezimila.

Iningi labantu lizuza lolu guquko lwezakhi zofuzo kubazali babo. Kodwa-ke, kwezinye izimo, lolu guquko lwezakhi zofuzo lungenzeka ngokungahleliwe ngaphambi kokuzalwa, ngaphandle komlando womndeni.

Lokhu kuguquka kwezakhi zofuzo kuzuzwe njengefa ngendlela "elawulayo ye-autosomal" . Kalula nje, uthola isakhi sofuzo esijwayelekile komunye umzali kanye nesakhi sofuzo esiguquliwe komunye. Udinga ukuba nesakhi sofuzo se-PTCH noma se-SUFU ukuze uthuthukise i-Gorlin syndrome.

Ososayensi bathi umuntu one-Gorlin syndrome uba nomdlavuza kuphela uma ikhophi evamile ye-tumor suppressor gene ishintshwa ngandlela thile. Isibonelo, umonakalo ovela elangeni ungabangela ukuthi i-gene enhle iguquke. Ngemuva kwalokho, zombili izakhi zofuzo azisebenzi kahle, futhi izimila azikwazi ukumiswa. Yilokhu okubangela umdlavuza wesikhumba. Futhi uma amanye amangqamuzana emzimbeni onakele ngale ndlela, ezinye izinhlobo zomdlavuza zingakhula.

Odokotela bakuthola kanjani lesi simo?

Ukuze axilonge i-Gorlin syndrome, udokotela wakho uzokwenza okulandelayo:

• Ukuhlolwa komzimba: Hlola umdlavuza wesikhumba.
• Ukuhlolwa kwezithombe: Hlola izimila, ama-fibroma, noma izinkinga zamathambo ethanjeni lomhlathi (isib. i-X-ray, i-CT scan, i-MRI scan).
• I-Biopsy: Inqubo lapho kususwa khona ingxenye encane yezicubu esikhumbeni noma eqhubu bese ihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi inamangqamuzana omdlavuza.
• Ukuhlolwa kofuzo: Kuthathwa isampula yegazi ukuze kuhlolwe ukuthi une-mutation yofuzo ehlobene ne-Gorlin syndrome.

Yiziphi izindlela zokwelapha i-Gorlin Syndrome?

Nakuba kungekho ukwelashwa okuqondile kwe-Gorlin syndrome ngokwayo, uma uhlakulela izimila ezinomdlavuza noma ezibangela ezinye izinkinga, kungadingeka ukuthi uzelaphe. Isibonelo:

• Umdlavuza wesikhumba noma isimila somhlathi singasuswa ngokuhlinzwa .
• Ezinye izindlela zokwelapha umdlavuza, njengokhilimu osetshenziswa endaweni noma ukwelashwa nge-photodynamic, zingasetshenziswa futhi ukubhubhisa amangqamuzana omdlavuza.

Ngenxa yokuthi usengozini enkulu yokuba nomdlavuza, udokotela wakho angase akuncome ukuthi usebenzise isithako esihle sokuvikela ilanga, ugqoke izingubo ezinemikhono emide, futhi ugqoke isigqoko uma uselangeni. Futhi, ukuhlolwa okufana ne-X-ray kwenziwa kuphela uma kudingeka ngempela. Ngokuvamile, odokotela bezifo zomdlavuza bayakugwema ukunikeza ukwelashwa ngemisebe njengokwelashwa komdlavuza kubantu abane-Gorlin syndrome. Lokhu kungenxa yokuthi imisebe ingandisa ingozi yomdlavuza.

Ingabe i-Gorlin Syndrome ingavinjelwa?

Asikwazi ukulawula izakhi zofuzo esizalwa nazo. Ngakho-ke, ayikho indlela yokuvimbela i-Gorlin syndrome. Kodwa-ke, unganciphisa ingozi yakho yokuba nomdlavuza wesikhumba ngokuthatha izinyathelo zokuwuvimbela . Futhi, ngokuhlolwa njalo kwezokwelapha, ungawuthola umdlavuza usesesigabeni sokuqala. Ngemuva kwalokho kulula ukuwelapha.

Uma une-Gorlin syndrome (noma uma othile emndenini wakho enayo) futhi uhlela ukuba nezingane futhi ukhathazekile ngokuthi ingane yakho ingase iyithole njengefa, bheka umeluleki wezakhi zofuzo . Bazokuchazela izingozi kuwe nakumlingani wakho.

Liyoba njani ikusasa kumuntu ophila nalesi simo? (I-Outlook)

Abantu abaningi baphatha i-Gorlin syndrome ngokuthatha izinyathelo zokuvimbela umdlavuza wesikhumba nokuhlolwa njalo kwezokwelapha. Ngokuhlolwa njalo komdlavuza njengoba kunconywe udokotela wakho, noma yiziphi izinkinga zingatholakala kusenesikhathi . Abantu abane-Gorlin syndrome bangaphila isikhathi eside kanye nalabo abangenayo leso simo njengabantu abangenayo leso simo.

Futhi, into ebaluleke kakhulu okufanele uyikhumbule ukuthi akuwona wonke umuntu one-Gorlin syndrome ozoba nomdlavuza noma abe nezinkinga ezifanayo. Iyahlukahluka kuye ngomuntu. Udokotela wakho uzokweluleka ngesimo sakho ngokusekelwe ezimpawini zakho.

Ngizinakekela kanjani? (Ukuzinakekela)

Uma une-Gorlin syndrome, kufanele uthathe lezi zinyathelo ezikhethekile ukuvimbela umdlavuza wesikhumba:

• Gwema ukusebenzisa imibhede yokushiswa kwesikhumba.
• Hlala endlini ngangokunokwenzeka ngesikhathi selanga elishisa kakhulu (10 ekuseni kuya ku-4 ntambama).
• Gqoka isithako sokuvikela ilanga esibanzi okungenani esine-SPF 30 nsuku zonke. Phinda usifake njalo.
• Uma uphuma ngaphandle, gqoka izingubo ezivikela i-UV kanye nesigqoko esinompheme obanzi.

Kuzodingeka futhi ubone odokotela abahlukene ukuze uhlole umdlavuza nezinye izimo. Ukuthi udinga ukuya kangaki kuzoncika ekutheni bathola yini izimila noma ezinye izinkinga. Lokhu kuvakashela odokotela kungafaka:

• Hlola isikhumba sakho kudokotela wesikhumba.
• Ukuhlolwa kwamazinyo kanye nokuhlolwa kwezithombe ukuhlola izimila ethanjeni lomhlathi.
• Ukuhlolwa kwezithombe ukuhlola ama-fibroma, izimila zobuchopho, noma izinkinga zokubona.

Kufanele ngimbone nini udokotela?

Uma usola ukuthi wena noma ingane yakho ine-basal cell carcinoma, bona udokotela ngokushesha . Lolu uphawu oluvame kakhulu lwe-Gorlin syndrome. Njengakwezinye izinhlobo zomdlavuza wesikhumba, qaphela noma yiziphi izigaxa noma amabala amasha, aqhubekayo, noma akhulayo.

Umdlavuza wesikhumba awuvami ukuhlotshaniswa ne-Gorlin syndrome, kodwa kungakhathaliseki ukuthi imbangela iyini, kubalulekile ukuhlolwa.

Yimiphi imibuzo okufanele uyibuze udokotela?

Uma kutholakale ukuthi une-Gorlin syndrome, ungase ufune ukubuza udokotela wakho le mibuzo:

• Yiziphi izimpawu zomdlavuza okufanele ngizazi?
• Kukangaki ngidinga ukuhlolwa umdlavuza?
• Yini engingayenza ukuze nginciphise ingozi yami yomdlavuza?
• Ingabe ngizodinga ukwelashwa kwezimila ezingezona umdlavuza?
• Angakanani amathuba okuba ngibe nomntwana one-Gorlin syndrome?

I-Gorlin syndrome iza nezinselele eziningana abantu abangenayo le nkinga abangase bangaziboni. Uma une-NBCCS, wena nethimba lakho lezokwelapha kufanele niqaphele kakhulu ekutholeni nasekwelapheni noma iyiphi i-basal cell carcinoma eqalayo.

Umyalezo Wokugcina Wokuya Nasekhaya

Izindaba ezinhle ukuthi ama-basal cell carcinomas angelapheka ngokuphelele uma elashwa kusenesikhathi. Futhi, ama-tumors angewona umdlavuza avame ukungabangeli izinkinga. Uma eba, udokotela angazisusa noma ancome ezinye izindlela zokwelapha. Ungaphila impilo ende negcwele nge-Gorlin syndrome. Ngakho-ke, ungesabi, kodwa qaphela. Landela iseluleko sezokwelapha esifanele, futhi konke kuzolunga!

I- Gorlin syndrome, i-NBCCS, i-basal cell carcinoma, izifo zofuzo, umdlavuza wesikhumba, i-dermatology