Ngaba unamaqhuma anje eluswini lwakho? Masifunde ngeBrooke-Spiegler Syndrome.

Ngaba wakha waphawula amaqhuqhuva amancinci eluswini lwakho, ingakumbi ebusweni bakho, entanyeni, okanye entlokweni, akukhathazayo? Ngamanye amaxesha usenokungazi ukuba yintoni okanye kutheni esenzeka. Namhlanje siza kuthetha ngemeko yesikhumba enokubangela amaqhuqhuva anjalo, kodwa ayiqhelekanga, oko kuthetha ukuba ayenzeki kuwo wonke umntu. Oku kubizwa ngokuba yiBrooke-Spiegler Syndrome. Ungakhathazeki, masithethe ngale nto ngokulula.

Yintoni iBrooke-Spiegler Syndrome?

Ngamafutshane, iBrooke-Spiegler Syndrome sisifo esingaqhelekanga sesikhumba . Sibangela ukuba kubekho amaqhuma (abizwa ngokuba zii-tumor) eluswini lwakho, ingakumbi ebusweni bakho, entanyeni, nasentlokweni. Ngamanye amaxesha la maqhuma anokwakheka nakwamanye amalungu omzimba wakho. Amaxesha amaninzi, aqala ukubonakala xa usemncinci, malunga neminyaka elishumi elinesibhozo okanye engamashumi amabini ubudala .

Xa kufikwa kula maqhuqhuva, uninzi lwexesha awabi nomhlaza (oko kukuthi, 'ayinabungozi'), oko kukuthi, ayinabungozi. Nangona kunjalo, kufuneka sikhumbule ukuba, ngokufuthi, ngokuhamba kwexesha, anokuba nomhlaza (oko kukuthi, 'ayabulala'). Ngamanye amaxesha, xa la maqhuqhuva angenabungozi ekhula, anokwenzakala, abe 'ngamanxeba avulekileyo', kwaye anokubangela usulelo.

Esi simo sidla ngokufunyanwa njengelifa kubazali bakho, oko kuthetha ukuba sisifo semfuza . Nangona kunjalo, kunqabile kakhulu ukuba umntu abe nesifo seBrooks-Spiegel nokuba akukho mntu kusapho lwakho onesifo.

Eyona nto ilungileyo kukuba, kukho unyango loku. Amaxesha amaninzi, utyando lolona khetho luphela. Ngonyango olufanelekileyo, uninzi lwabantu abanale meko banokuphila ubomi obuqhelekileyo, obonwabisayo nobusebenzayo.

Ngaba kukho amanye amagama alo mba?

Ewe, oogqirha basebenzisa amanye amagama aliqela kwesi sifo sikaBrooke-Spiegler. Ungaweva la magama:

• Ii-cylindroma ze-Ancell-Spiegler
• I-CYLD cutaneous syndrome (CCS)
• I-cylindromatosis yosapho (FC)
• Ii-trichoepitheliomas zeentsapho ezininzi (i-MFT)

Nangona la magama esenokubonakala entsonkothile, onke ngamagama anesimo esifanayo.

Ixhaphake kangakanani le meko?

Esi sisifo esingaqhelekanga ngokwenene. Abaphandi bathi malunga nomntu omnye kwisigidi uba neBrooks-Spiegel syndrome. Ngoko ke, asinto ixhaphakileyo.

Zithini iimpawu? Jonga ukuba unazo na ezi...

Uphawu oluphambili lwale meko kukwakheka kwamaqhuqhuva esikhumba . La maqhuqhuva adla ngokuqala ebusweni, entanyeni, nasentlokweni. La maqhuqhuva adla ngokuba yingqukuva kwaye anobubanzi obuqala kwi-0.5 ukuya kwi-3 centimeters (cm).

Ekuhambeni kwexesha, la maqhuqhuva anokwanda ngenani nangobukhulu. Ngamanye amaxesha anokonakalisa imbonakalo. Amaxesha amaninzi, la maqhuqhuva abuhlungu . Kwakhona, ukuba akheka kulusu lwendawo yesini, anokubangela ukungasebenzi kakuhle ngokwesondo. Enye into kukuba ngamanye amaxesha la maqhuqhuva anokusasazeka entloko yonke aze abangele ukulahleka kweenwele . Ezi zinto zinokubangela nokudakumba.

Ukongeza kwezi ziqhuma, ngamanye amaxesha unokubona izinto ezincinci, ezimhlophe, ezifana namaqhubu (milia) eluswini lwakho. Ezi 'milia' azinabungozi, kodwa zinokuba yingxaki kwabanye abantu.

Ziziphi ezi ntlobo zeethumba? (Iintlobo zeethumba zesikhumba kwi-BSS)

Kukho iintlobo ezintathu eziphambili zamaqhuqhuva abonakala kwiBrooke-Spiegler syndrome:

1. IiCylindroma: Ezi zihlala ziingceba ezithambileyo nezipinki. Zihlala zikhula entlokweni, apho kukho iifollicles zeenwele. Zingakhula nasebusweni, ezindlebeni, kwaye zingaphumi rhoqo emiphungeni. Zinokwahluka ngobukhulu ukusuka kwiimilimitha ezimbalwa ukuya kwiisentimitha ezininzi. Xa zikhula entlokweni, zinokuhlangana zize zibonakale njengeziqwenga zephazili.

2. IiSpiradenomas: Ezi ziziqwenga eziqinileyo nezinamaqhuqhuva. Zifumaneka kakhulu entlokweni, entanyeni, nasemzimbeni ongaphezulu. Zinokwahluka ngobukhulu ukusuka ngaphantsi kwesentimitha ukuya kwiisentimitha ezininzi. Zihlala ziluhlaza okwesibhakabhaka okanye zibe nombala wesikhumba. Kodwa zinokuba ngwevu, pinki, mfusa, bomvu, okanye tyheli. IiSpiradenomas ngamanye amaxesha zinokuba buhlungu.

3. IiTrichoepitheliomas: Ezi ziindawo eziqinileyo nezikhazimlayo. Zihlala zibonakala ebusweni, kwiindawo ezineenwele. Zihlala zincinci kunesentimitha. Zingaba luhlaza okwesibhakabhaka, mdaka, zibe nombala wesikhumba, zipinki, okanye zibe tyheli.

Into ebalulekileyo kukuba ngamanye amaxesha kwesi sifo seBrook-Spiegler, iimpawu zezi ntlobo zimbini okanye ezintathu zezi zifo zinokubonakala kwisifo esinye.

Ingaba le meko ichaphazela amanye amalungu omzimba?

Ewe, ngamanye amaxesha la maqhuqhuva anokukhula kwezinye iindawo zomzimba. Kwiimeko ezinjalo, ukusebenza kwala malungu kunokuchaphazeleka. Umzekelo:

• Ukuba iyenzeka kwimibhobho yomoya , inokubangela ubunzima bokuphefumla.
• Ukuba ikhula ezindlebeni , ukuva kunokuchaphazeleka.
• Ukuba oku kwenzeka emehlweni , umbono ungachaphazeleka.
• Ukuba zenzeka kwizitho zangasese , ukusebenza kwesondo kunokuphazamiseka.
• Ukuba ikhula emlonyeni nakwiindlala zamathe , ukuhlafuna nokuginya kunokuchaphazeleka.
• ImpumloUkuba iyenzeka, inokuchaphazela ivumba.

Kutheni kukho isifo sikaBrooke-Spiegler?

Eyona sizathu siphambili soku lutshintsho lwemfuza (`utshintsho`) kwijini ye-`CYLD` emzimbeni wethu. Ukuze ube nale meko, ubuncinane omnye wabazali bakho kufuneka abe ngumthwali wale nguqu yemfuza. Oku kuthetha ukuba idluliselwa kwisizukulwana ukuya kwesinye .

Nangona kunjalo, kunqabile kakhulu ukuba umntu ongenalo imbali yosapho lwesi sifo aphuhlise olu tshintsho lwezakhi zofuzo (`de novo mutation`) emzimbeni wakhe. Kwiimeko ezinjalo, utshintsho lwezakhi zofuzo lunokubakho kuphela kwiindawo ezithile zomzimba. Emva koko, iithumba zinokukhula kuphela kwezo ndawo.

Ngubani onokuthi aphuhlise oku ngakumbi?

Enyanisweni, nabani na waluphi na ubudala, uhlanga, okanye isini unokuba neBrooks-Spiegel syndrome. Nangona kunjalo, ukuba omnye wabazali bakho une-gene mutation enxulumene nale meko, usemngciphekweni omkhulu wokuba nayo.

I-Brooke-Spiegler syndrome sisifo esilawulayo esibangelwa yi-autosomal dominant disorder. Ngamafutshane, ukuba omnye wabazali bakho uneempawu (oko kukuthi, uneempawu), unethuba elingama-50% lokufumana esi sifo .

Uninzi lwabantu luqala ukubona iimpawu xa besebancinci, malunga neminyaka elishumi elinesibhozo okanye engamashumi amabini . Inani lala maqhuqhuva liqala ukwanda xa beneminyaka engama-30 nengama-40. Kuye kwaphawulwa ukuba abafazi bakhula amaqhuqhuva amaninzi kunamadoda.

Oogqirha bayixilonga njani le nto?

Ukuba unale mpawu, ugqirha uza kuqala akubuze ngeempawu zakho, imbali yakho yezonyango, kunye nembali yezonyango yosapho lwakho. Emva koko baza kwenza uvavanyo lomzimba.

Ukuba ugqirha urhanela ukuba isifo sikaBrooke-Spiegler sibangelwa yingxaki, unokucebisa ukuba kwenziwe i-skin biopsy , equka ukuthatha isampuli encinci yeeseli ezivela kwiqhubu uze ulithumele kwilebhu ukuze lihlolwe phantsi kwe-microscope.

Ugqirha wakho unokucebisa novavanyo lwemfuza , olunokukhangela utshintsho kwiimfuza ezibangela isifo seBrooks-Spiegel.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Ngelishwa, okwangoku akukho nyango lweBrooke-Spiegel syndrome. Kodwa ungakhathazeki. Kukho unyango olusebenzayo lokunceda ukususa la maqhuqhuva nokulawula ukuqhubela phambili kwesi sifo.

Ngoko ke zeziphi iindlela zonyango ze-BSS?

Ugqirha wakho usenokucebisa ukuba kususwe la maqhuqhuva ngotyando . Oku kuquka ukusika amaqhuqhuva ngesixhobo esibukhali esibizwa ngokuba yi-scalpel. Xa besenza njalo, oogqirha bayaqaphela ukuba bangonakalisi ulusu oluphilileyo olujikelezileyo kangangoko kunokwenzeka.

Ngamanye amaxesha, ukuba kufuneka kususwe indawo enkulu yolusu lwentloko, ugqirha wakho unokuthiKungacetyiswa ukuba kusetyenziswe ulusu oluqhekekileyo. Oku kuquka ukuthatha umaleko wolusu oluvela kwenye indawo yomzimba wakho, rhoqo ukusuka ezinqeni okanye ethangeni elingaphezulu, ukuze kuvalwe inxeba kwaye lincede liphole.

Ukongeza koku, kukho ezinye iindlela ezininzi zokunyanga i-Bruck-Spiegler syndrome:

• Ukuphinda kufakwe i-carbon dioxide nge-laser resurfacing: Oku kusebenzisa imisebe ye-laser ukususa iileya ezincinci zesikhumba ngaphandle kokonakalisa izicubu ezijikelezileyo.
• Unyango lweCryotherapy: Oku kuquka ukufaka ubushushu obugqithisileyo ukuze kuqandiswe kwaye kutshatyalaliswe izicubu ezikwiqhuma. Kufana nokulitshisa ngeqhwa.
• I-Dermabrasion: Oku kuquka ukusebenzisa isixhobo esijikelezayo ngokukhawuleza ukususa umaleko ophezulu wolusu.
• Ukucoca ngombane: Umbane usetyenziselwa ukomisa izicubu ezingaphakathi kweqhuma.
• Ukufukuka: Ukusetyenziswa kombane ukuze kutshatyalaliswe ithumba.
• Ukuqina kwesikhumba: I-electropulse ithunyelwa ngenaliti encinci, etshisa kwaye isuse i-wart.
• Utyando lweMohs: Kule nkqubo, ugqirha ususa ithumba kunye nenani elincinci lezicubu eziphilileyo ezijikeleze lona aze alithumele ukuba liye kuhlolwa.
• Unyango lwe-Photodynamic: Kule meko, kunikwa amayeza akhethekileyo (i-photosensitizers), emva koko ukukhanya kujoliswe kwi-tumor, kusebenze amayeza kwaye kutshabalalise amathumba.

Ukongeza kwezi ndlela zonyango, oogqirha banokucebisa amayeza anokunceda ekumiseni ukukhula kweethumba.

Yintoni onokuyilindela xa uphila nale meko?

I-Brooks-Spiegel syndrome yimeko yempilo ehlala ubomi bonke . Nangona kunjalo, njengoko bekutshiwo ngaphambili, abantu abanale meko banokuphila ubomi obuqhelekileyo nobupheleleyo.

Nangona kunjalo, kukho umngcipheko omncinci. Phakathi kwe-5% kunye ne-10% yabantu abane-Bruck-Spiegel syndrome bafumana iithumba ezinobungozi . Abantu abanale meko nabo banomngcipheko okhulayo wokufumana ezinye iintlobo zomhlaza. Umzekelo:

• Umhlaza we-Adenocarcinoma
• I-basal cell carcinoma (kwakhona nomhlaza wolusu)
• Umhlaza we-salivary gland, umzekelo i-adenoid cystic carcinoma
• I-Squamous cell carcinoma (ikwangumhlaza wolusu)

Liza kuba njani ikamva? (Imbono)

Amaxesha amaninzi, la maqhuqhuva anokuphinda avele . Ukuba oku kuyenzeka, kunokufuneka utyando olongezelelweyo okanye olunye unyango ukuze kususwe amaqhuqhuva amatsha.

Ngaba ikho indlela yokunciphisa oku kwenzekayo?

Ngelishwa, akukho ndlela ithile yokuthintela okanye yokunciphisa umngcipheko wakho wokuba neBrook-Spiegel syndrome. Nangona kunjalo, njengoko bekutshiwo ngaphambili, unyango lunokunciphisa inani lamaqhuma onawo kunye nobukhulu bawo.

Uzinyamekela njani njengomntu oneBrooke-Spiegler Syndrome?

Xa uphila nale meko, kukho izinto ezibalulekileyo onokuzenza ukuze uzinyamekele:

• Bona ugqirha wesikhumba rhoqo ukuze uhlolwe ulusu. Oku kufanele kwenziwe ubuncinane kanye ngonyaka. Abanye abantu banokufuna ukubona ugqirha rhoqo kwiinyanga ezintathu ukuya kwezine ukuba banamaqhuqhuva rhoqo.
• Zihlole ulusu lwakho ubuncinane kanye ngenyanga. Khangela amaqhuma amatsha okanye utshintsho kwezikhoyo.
• Qiniseka ukuba usebenzisa i-sunscreen xa uphuma elangeni. Oku kuya kunceda ukunciphisa umonakalo welanga kulusu lwakho kwaye kunciphise umngcipheko womhlaza wolusu.

Ngawaphi amaxesha apho kufuneka uye kugqirha?

Ukuba ubona naluphi na utshintsho olunjalo kumaqhuqhuva esikhumba sakho, kuya kufuneka ubone ugqirha ngoko nangoko :

• Ukuba amaqhuma aba buhlungu .
• Ukuba amaqhuma ayopha .
• Ukuba umbala wamaqhuma uyatshintsha .
• Ukuba amaqhuma akhula ngokukhawuleza .
• Ukuba iqhuma libonakala ngathi sisilonda (`sidumbile`) .

Kwakhona, ukuba ulindele umntwana, oko kukuthi, ukuba uceba ukukhulelwa, kunokuba kubaluleke kakhulu ukuthetha nogqirha kwaye ufumane ingcebiso ngemfuza .

Yintoni umahluko phakathi kweBrooke-Spiegler Syndrome kunye neNeurofibromatosis?

Zombini ezi zifo ziimeko zemfuza. Zombini zibangela ikakhulu iithumba ezingengomhlaza (ezingengomhlaza). Nangona kunjalo, kukho umahluko omncinci.

• KwiBrooke -Spiegler syndrome (BSS), amaqhuma aqala kakhulu eluswini .
• Kwi- neurofibromatosis, amaqhuma anokuvela eluswini, phantsi kolusu, nakwimithambo -luvo yakho .

Kukho iintlobo ezintathu eziphambili ze-neurofibromatosis. Masifunde kancinci ngazo:

• Uhlobo lwe-Neurofibromatosis 1 (NF1): Kule meko, kuvela amaqhuma (i-neurofibromas) phezu okanye phantsi kwesikhumba.
• Uhlobo lwe-Neurofibromatosis 2 (NF2): Kolu hlobo lwe-neurofibromatosis, iithumba (schwannomas) zikhula kwimithambo-luvo yengqondo kunye nomqolo (inkqubo yemithambo-luvo ejikeleze i-peripheral). Ngokuqhelekileyo, imithambo-luvo yokuva iyachaphazeleka.
• I-Schwannomatosis:Oku kuquka neethumba ezibizwa ngokuba yi-schwannomas, kodwa zikwinkqubo yemithambo-luvo ejikeleze umzimba. Ngokuqhelekileyo azichaphazeli imithambo-luvo ebandakanyeka ekuveni.

Ngoko ke, nangona zombini ezi zifo ziyimeko yemfuza ebangela amaqhuma, kukho umahluko omncinci kwiindawo ezichaphazelayo kunye neentlobo zamaqhuma.

Umyalezo Wokuya Ekhaya

Kulungile, ngoko ke ndiyathemba ukuba ngoku uyiqonda ngcono iBrooke-Spiegler Syndrome esithethe ngayo namhlanje.

Khumbula, ukuba ubona amaqhuma amatsha eluswini lwakho, ingakumbi ebusweni bakho, entanyeni, okanye entlokweni, okanye ukuba ubona utshintsho kwilungu elikhoyo, musa ukulityeshela. Kungcono ukubona ugqirha uze uhlolwe.

Nangona isifo sikaBrooke-Spiegel sisifo esingaqhelekanga, kubalulekile ukuba usiqaphele. Nangona la maqhuqhuva edla ngokuba yingozi, awanakubakho njengomhlaza, ngoko ke kubalulekile ukufuna iingcebiso zonyango ezifanelekileyo kunye nonyango . Ukuba ufunyenwe kwangethuba kwaye ulawulwa ngokufanelekileyo, nawe ungaphila ubomi obuqhelekileyo nobunempilo. Akukho nto yokukhathazeka ngayo, nantoni na ingasonjululwa ngokuthetha nogqirha wakho.

Isifo sikaBrooke -Spiegler, amaqhuqhuva esikhumba, izifo zemfuza, i-cylindroma, i-spiradenom, i-trichoepithelioma, i-CYLD gene