Ingabe uthola amaqhubu anjengala esikhumbeni sakho? Ake sifunde nge-Brooke-Spiegler Syndrome.

Wake waphawula amaqhubu amancane esikhumbeni sakho, ikakhulukazi ebusweni bakho, entanyeni, noma ekhanda, akukhathazayo? Ngezinye izikhathi ungase ungazi ukuthi ayini noma ukuthi kungani eyenzeka. Namuhla sizokhuluma ngesimo sesikhumba esingabangela amaqhubu anjalo, kodwa akuvamile, okusho ukuthi akwenzeki kuwo wonke umuntu. Lokhu kubizwa ngokuthi i-Brooke-Spiegler Syndrome. Ungakhathazeki, ake sixoxe ngalokhu kalula.

Iyini i-Brooke-Spiegler Syndrome?

Kalula nje, i-Brooke-Spiegler Syndrome yisifo sesikhumba esingavamile . Sibangela ukwakheka kwamaqhubu (okubizwa nangokuthi amaqhubu) esikhumbeni sakho, ikakhulukazi ebusweni bakho, entanyeni, nasekhanda. Ngezinye izikhathi la maqhubu angakhiwa nakwezinye izingxenye zomzimba wakho. Ngokuvamile, aqala ukuvela usemusha, cishe uneminyaka eyishumi nesishiyagalombili noma engamashumi amabili .

Uma kukhulunywa ngala maqhubu, isikhathi esiningi awawona umdlavuza (okungukuthi, 'ayinabungozi'), okungukuthi, awabi nabungozi. Kodwa-ke, kumelwe sikhumbule nokuthi, akuvamile, ngokuhamba kwesikhathi, angaba nomdlavuza (okungukuthi, 'ayalimaza'). Ngezinye izikhathi, lapho la maqhubu angenobungozi ekhula, angalimala, abe 'amanxeba avulekile', futhi angabangela ngisho nokutheleleka.

Lesi simo sivame ukutholwa njengefa kubazali bakho, okusho ukuthi kuyisimo sofuzo . Kodwa-ke, akuvamile kakhulu ukuthi umuntu abe nesifo iBrooks-Spiegel ngisho noma kungekho muntu emndenini onalesi simo.

Into engcono kakhulu ukuthi, kukhona ukwelashwa kwalokhu. Ngokuvamile, ukuhlinzwa kuyindlela kuphela. Ngokwelashwa okufanele, abantu abaningi abanalesi simo bangaphila impilo evamile, ejabulisayo, nesebenzayo.

Ingabe kukhona amanye amagama alokhu?

Yebo, odokotela basebenzisa amanye amagama amaningana alesi sifo sikaBrooke-Spiegler. Ungase uzwe nalawa magama:

• Ama-cylindroma e-Ancell-Spiegler
• I-CYLD cutaneous syndrome (CCS)
• I-cylindromatosis yomndeni (FC)
• Ama-trichoepitheliomas omndeni amaningi (i-MFT)

Nakuba la magama engase abonakale eyinkimbinkimbi kancane, wonke angamagama esimo esifanayo.

Sivame kangakanani lesi simo?

Empeleni lesi yisimo esingavamile kakhulu . Abacwaningi bathi cishe umuntu oyedwa kwabayisigidi uba ne-Brooks-Spiegel syndrome. Ngakho-ke, akuyona into evame kakhulu.

Ziyini izimpawu? Bheka ukuthi unazo yini lezi...

Uphawu oluyinhloko lwalesi simo ukwakheka kwamaqhubu esikhumba . Lokhu kuvame ukuqala ebusweni bakho, entanyeni, nasekhanda. La maqhubu ngokuvamile ayindilinga futhi angaba nobukhulu obusukela ku-0.5 kuya ku-3 cm.

Ngokuhamba kwesikhathi, la maqhubu anganda ngenani nangobukhulu. Ngezinye izikhathi angalimaza isimo. Ngokuvamile, la maqhubu ayabuhlungu . Futhi, uma akheka esikhumbeni sendawo yokuzala, angabangela ukungasebenzi kahle kocansi. Enye into ukuthi ngezinye izikhathi la maqhubu angasakazeka ekhanda lonke futhi abangele ukulahleka kwezinwele . Lezi zinto zingabangela nokucindezeleka.

Ngaphezu kwalezi ziqhubu, ngezinye izikhathi ungase ubone izinto ezincane, ezimhlophe, ezifana nama-blister (milia) esikhumbeni sakho. Lezi 'milia' azilimazi, kodwa zingaba yinkinga kwabanye abantu.

Yiziphi lezi zinhlobo zamathumba? (Izinhlobo zamathumba esikhumba ku-BSS)

Kunezinhlobo ezintathu eziyinhloko zamaqhubu abonakala ku-Brooke-Spiegler syndrome:

1. Ama-Cylindroma: Lawa ngokuvamile amaqhubu abushelelezi, apinki. Avame ukuvela ekhanda, lapho kukhona khona izinwele. Angavela nasebusweni, ezindlebeni, futhi akuvamile emaphashini. Angahluka ngobukhulu kusukela kumamilimitha ambalwa kuya kumasentimitha amaningana. Uma ekhula ekhanda, angahlangana ndawonye abukeke njengezingcezu zephazili ye-jigsaw.

2. Ama-Spiradenoma: Lawa amaqhubu aqinile, anamaqhubu. Avame ukutholakala ekhanda, entanyeni, nasemzimbeni ongaphezulu. Angaba ngobukhulu obungaphansi kwesentimitha elilodwa kuya kumasentimitha amaningana. Avame ukuba luhlaza okwesibhakabhaka noma abe nombala wesikhumba. Kodwa angaba mpunga, opinki, onsomi, obomvu, noma ophuzi. Ama-Spiradenoma ngezinye izikhathi angaba buhlungu.

3. Ama-Trichoepithelioma: Lawa futhi amaqhubu aqinile, acwebezelayo. Avame ukuvela ebusweni, ezindaweni ezinezinwele. Ngokuvamile mancane kunesentimitha. Angaba luhlaza okwesibhakabhaka, onsundu, anombala wesikhumba, apinki, noma aphuzi.

Into ebalulekile ukuthi ngezinye izikhathi kulesi sifo seBrook-Spiegler, izici ezimbili noma ezintathu zalezi zinhlobo zamathumba zingabonakala esigaxeni esifanayo.

Ingabe lesi simo sithinta ezinye izingxenye zomzimba?

Yebo, ngezinye izikhathi la maqhubu angakhula kwezinye izingxenye zomzimba. Ezimweni ezinjalo, ukusebenza kwalezo zitho kungathinteka. Isibonelo:

• Uma kwenzeka emigudwini yomoya , kungabangela ubunzima bokuphefumula.
• Uma kuvela ezindlebeni , ukuzwa kungathinteka.
• Uma kwenzeka emehlweni , umbono ungathinteka.
• Uma zakheka ezithweni zangasese , ukusebenza kocansi kungathinteka.
• Uma kuvela emlonyeni nasezinhlayiyeni zamathe , ukuhlafuna nokugwinya kungathinteka.
• ImpumuloUma kwenzeka, kungathinta umuzwa wokuhogela.

Kungani kwenzeka i-Brooke-Spiegler Syndrome?

Isizathu esiyinhloko salokhu izinguquko zofuzo (`ukuguqulwa kwezakhi zofuzo`) ku-'CYLD' gene' emzimbeni wethu. Ukuze ube nalesi simo, okungenani oyedwa wabazali bakho kumele abe ngumthwali walesi shintsho sofuzo. Lokhu kusho ukuthi sidluliselwa esizukulwaneni kuya kwesinye .

Kodwa-ke, akuvamile kakhulu, umuntu ongenalo umlando womndeni walesi sifo angaba nalolu shintsho lwezakhi zofuzo (`de novo mutation`) emzimbeni wakhe. Ezimweni ezinjalo, uguquko lwezakhi zofuzo lungaba khona kuphela ezingxenyeni ezithile zomzimba. Ngemuva kwalokho, izimila zingakhula kuphela kulezo zingxenye.

Ubani onamathuba amaningi okuthuthukisa lokhu?

Eqinisweni, noma ubani wanoma yimuphi ubudala, uhlanga, noma ubulili angaba ne-Brooks-Spiegel syndrome. Kodwa-ke, uma omunye wabazali bakho ene-gene mutation ehlobene nalesi simo, usengozini enkulu yokuba nayo.

I-Brooke-Spiegler syndrome iyisifo esivame kakhulu esenzeka nge-autosomal dominant. Kalula nje, uma omunye wabazali bakho enesifo (okungukuthi, enezimpawu), unethuba elingu-50% lokuthuthukisa lesi simo .

Iningi labantu liqala ukuzwa izimpawu lapho besebancane, cishe beneminyaka eyishumi nesishiyagalombili noma engamashumi amabili . Inani lalezi ziqhubu liqala ukwanda lapho beneminyaka engu-30 no-40. Kuye kwaphawulwa nokuthi abesifazane bakhula iziqhubu eziningi kunabesilisa.

Odokotela bakuthola kanjani lokhu?

Uma unalezi zimpawu, udokotela uzoqala akubuze ngezimpawu zakho, umlando wakho wezokwelapha, kanye nomlando wezokwelapha womndeni wakho. Bese bezokwenza ukuhlolwa ngokomzimba.

Uma udokotela esola ukuthi i-Brooke-Spiegler syndrome inesifo, angase asikisele ukuthi kwenziwe i-biopsy yesikhumba , okuhilela ukuthatha isampula encane yamaseli avela eqhubu bese elithumela elabhorethri ukuze lihlolwe ngaphansi kwe-microscope.

Udokotela wakho angase futhi aphakamise ukuhlolwa kwezakhi zofuzo , okungabheka izinguquko ezakhiweni zofuzo ezibangela i-Brooks-Spiegel syndrome.

Ingabe ikhona ikhambi eliphelele lalokhu?

Ngeshwa, okwamanje alikho ikhambi le-Brooke-Spiegel syndrome. Kodwa ungakhathazeki. Kunezindlela zokwelapha ezisebenzayo zokusiza ukususa la maqhubu nokulawula ukuqhubeka kwesifo.

Ngakho-ke yiziphi izindlela zokwelapha i-BSS?

Udokotela wakho cishe uzoncoma ukususwa kwesikhumba ngokuhlinzwa ukuze kususwe lezi ziqhumane. Lokhu kuhilela ukusika iziqhumane ngethuluzi elibukhali elibizwa ngokuthi i-scalpel. Lapho benza kanjalo, odokotela bayaqaphela ukugwema ukulimaza isikhumba esizungezile esinempilo ngangokunokwenzeka.

Ngezinye izikhathi, uma indawo enkulu yesikhumba sekhanda idinga ukususwa, udokotela wakho angaseKunganconywa ukufakelwa kwesikhumba okuqhekekile. Lokhu kuhilela ukuthatha ungqimba lwesikhumba kwenye ingxenye yomzimba wakho, ngokuvamile kusukela ezinqeni noma ethangeni elingenhla, ukuze uvale inxeba futhi ulisize liphole.

Ngaphezu kwalokhu, kunezinye izindlela eziningana zokwelapha i-Bruck-Spiegler syndrome:

• Ukuphinda kufakwe i-carbon dioxide nge-laser resurfacing: Lokhu kusebenzisa imisebe ye-laser ukususa izendlalelo ezincane zesikhumba ngaphandle kokulimaza izicubu ezizungezile.
• Ukwelashwa nge-cryotherapy: Lokhu kuhilela ukufaka umkhuhlane omkhulu ukuze kuqandiswe futhi kubhujiswe izicubu ezikuqhubu. Kufana nokushiswa ngeqhwa.
• I-Dermabrasion: Lokhu kuhilela ukusebenzisa idivayisi ejikelezayo ngokushesha ukususa ungqimba olungaphezulu lwesikhumba.
• Ukukhipha i-Electro: Ugesi usetshenziselwa ukomisa izicubu ezingaphakathi kweqhubu.
• Ukuqhekeka: Ukusetshenziswa kokushaqeka kukagesi ukubhubhisa isimila.
• Ukushaqeka: Ukushaya kwenhliziyo kagesi kuthunyelwa ngenaliti encane, eshisa futhi isuse insumpa.
• Ukuhlinzwa kwe-Mohs: Kule nqubo, udokotela ohlinzayo ususa isimila kanye nenani elincane lezicubu ezinempilo ezizungezile bese esithumela ukuze siyohlolwa.
• Ukwelashwa nge-Photodynamic: Kulokhu, kunikezwa imithi ekhethekile (i-photosensitizers), bese ukukhanya kuqondiswa esimila, kusebenze imithi futhi kubhubhise izimila.

Ngaphezu kwalezi zindlela zokwelapha, odokotela bangase basikisele nemithi esiza ekumiseni ukukhula kwezimila.

Yini ongayilindela uma uphila nalesi simo?

I-Brooks-Spiegel syndrome iyisimo sempilo esithinta impilo yonke . Kodwa-ke, njengoba kushiwo ngaphambili, abantu abanalesi simo bangaphila impilo evamile negcwele.

Kodwa-ke, kunengozi encane. Phakathi kuka-5% no-10% wabantu abane-Bruck-Spiegler syndrome bathola amathumba amabi . Abantu abanalesi simo nabo banengozi eyengeziwe kancane yokuthola ezinye izinhlobo zomdlavuza. Isibonelo:

• Umdlavuza we-Adenocarcinoma
• I-basal cell carcinoma (futhi umdlavuza wesikhumba)
• Umdlavuza wendlala yamathe, isibonelo i-adenoid cystic carcinoma
• I-squamous cell carcinoma (futhi umdlavuza wesikhumba)

Ikusasa lizosiphathelani? (I-Outlook)

Ngokuvamile, la maqhubu angaphinde avele . Uma lokhu kwenzeka, kungase kudingeke ukuhlinzwa okwengeziwe noma ezinye izindlela zokwelapha ukuze kususwe amaqhubu amasha.

Ingabe ikhona indlela yokunciphisa lokhu kwenzeka?

Ngeshwa, ayikho indlela eqondile yokuvimbela noma yokunciphisa ingozi yakho yokuba ne-Brook-Spiegel syndrome. Kodwa-ke, njengoba kushiwo ngaphambili, ukwelashwa kunganciphisa inani lamaqhubu onawo kanye nobukhulu bawo.

Uzinakekela kanjani njengomuntu one-Brooke-Spiegler Syndrome?

Uma uphila nalesi simo, kunezinto ezibalulekile ongazenza ukuze uzinakekele:

• Bonana nodokotela wesikhumba njalo ukuze uhlolwe isikhumba. Lokhu kufanele kwenziwe okungenani kanye ngonyaka. Abanye abantu kungadingeka babonane nodokotela njalo ezinyangeni ezintathu kuya kwezine uma bevame ukuqubuka.
• Zihlole isikhumba okungenani kanye ngenyanga. Bheka amaqhubu amasha noma izinguquko kwalawo akhona.
• Qiniseka ukuthi usebenzisa isithako sokuvikela ilanga uma uphuma elangeni. Lokhu kuzosiza ekunciphiseni umonakalo welanga esikhumbeni sakho futhi kunciphise nengozi yomdlavuza wesikhumba.

Yiziphi izikhathi lapho kufanele ubonane nodokotela?

Uma ubona noma yiluphi lwalezi zinguquko emaqhubu esikhumba sakho, kufanele ubonane nodokotela ngokushesha :

• Uma izigaxa ziba buhlungu .
• Uma izigaxa ziphuma igazi .
• Uma umbala wamaqhubu ushintsha .
• Uma izigaxa zikhula ngokushesha .
• Uma iqhubu libukeka njengesilonda (`izilonda`) .

Futhi, uma ulindele umntwana, okungukuthi, uma uhlela ukukhulelwa, kungabaluleka kakhulu ukukhuluma nodokotela futhi uthole ukwelulekwa ngofuzo .

Uyini umehluko phakathi kweBrooke-Spiegler Syndrome kanye ne-Neurofibromatosis?

Zombili lezi zifo ziyizimo zofuzo. Zombili zibangela ikakhulukazi izimila ezingenabungozi (ezingezona umdlavuza). Kodwa-ke, kunomehluko omncane.

• Ku- Brooke-Spiegler syndrome (BSS), amaqhubu aqala kakhulu esikhumbeni .
• Ku- neurofibromatosis, amaqhubu angavela esikhumbeni, ngaphansi kwesikhumba, kanye nasemithanjeni yakho .

Kunezinhlobo ezintathu eziyinhloko ze-neurofibromatosis. Ake sifunde kancane ngazo:

• Uhlobo lwe-Neurofibromatosis 1 (NF1): Kulokhu, kuvela amaqhubu (ama-neurofibromas) esikhumbeni noma ngaphansi kwaso.
• Uhlobo lwe-Neurofibromatosis 2 (NF2): Kulolu hlobo lwe-neurofibromatosis, izimila (i-schwannomas) zikhula emithanjeni yobuchopho kanye nomgogodla (isimiso sezinzwa esingaphandle). Ngokuvamile, izinzwa zokuzwa ziyathinteka.
• I-Schwannomatosis:Lokhu kuhilela nezimila ezibizwa ngokuthi ama-schwannoma, kodwa zisesimisweni sezinzwa esingaphandle. Ngokuvamile azithinti imizwa ehilelekile ekuzweni.

Ngakho-ke, nakuba zombili lezi zifo ziyizimo zofuzo ezibangela amaqhubu, kunomehluko omncane ezindaweni ezithinta zona kanye nezinhlobo zamaqhubu.

Umlayezo Wokuya Nawe Ekhaya

Kulungile, ngakho-ke ngithemba ukuthi usuyiqonda kangcono i-Brooke-Spiegler Syndrome esikhulume ngayo namuhla.

Khumbula, uma ubona amaqhubu amasha esikhumbeni sakho, ikakhulukazi ebusweni bakho, entanyeni, noma ekhanda, noma uma ubona ushintsho kwesevele sikhona, ungakushayi indiva. Kungcono ukubona udokotela bese uyahlolwa.

Nakuba i-Brooke-Spiegel syndrome iyisimo esingavamile, kubalulekile ukuqaphela. Nakuba la maqhubu evame ukuba yingozi, awavamile ukuba nomdlavuza, ngakho-ke kubalulekile ukufuna iseluleko sezokwelapha esifanele kanye nokwelashwa . Uma kutholakala kusenesikhathi futhi kuphathwa kahle, nawe ungaphila impilo evamile nenempilo. Akukho okufanele ukhathazeke ngakho, noma yini ingaxazululwa ngokukhuluma nodokotela wakho.

I- Brooke-Spiegler syndrome, amaqhubu esikhumba, izifo zofuzo, i-cylindroma, i-spiradenom, i-trichoepithelioma, i-CYLD gene