I-Epidermolysis Bullosa

Uhlolojikelele lwe-Epidermolysis Bullosa

I-Epidermolysis bullosa iyiqembu lezimo ezingavamile lapho isikhumba siba brittle futhi sinamabhamuza kalula. Izinyembezi, izilonda, namabhamuza esikhumbeni kwenzeka lapho okuthile kuhlikihla noma kushaya esikhunjeni. Angavela noma kuphi emzimbeni. Ezimweni ezimbi kakhulu, amabhamuza angakheka nangaphakathi emzimbeni, njengasemlonyeni, emmizweni, esiswini, emathunjini, emgudwini wokuphefumula ongenhla, esinyeni, nasezithweni zangasese.

Abantu abaningi abane-epidermolysis bullosa bazuza isakhi sofuzo esiguquliwe (esishintshile) kubazali babo. Ukuguqulwa kofuzo kushintsha indlela umzimba owenza ngayo amaprotheni asiza isikhumba ukuba sihlangane futhi sihlale siqinile. Uma une-epidermolysis bullosa, enye yala maprotheni ayenziwe ngendlela efanele. Izingqimba zesikhumba azivamisile ukuhlangana ndawonye, ​​okwenza isikhumba sidabuke futhi sibe namabhamuza kalula.

Uphawu oluyinhloko lwe-epidermolysis bullosa yisikhumba esintekenteke esiholela ekuqhumeni nokuklebhuka. Izimpawu zalesi sifo ngokuvamile ziqala lapho umuntu ezalwa noma esewusana futhi asukela kokuncane kuye kokuqina.

Alikho ikhambi lesifo; Nokho, ososayensi bayaqhubeka nokuhlola izindlela zokwelapha ezingase zibe khona ze-epidermolysis bullosa. Udokotela wakho welapha izimpawu, ezingase zihlanganise ukudambisa izinhlungu, ukwelapha izilonda ezibangelwa amabhamuza nezinyembezi, futhi akusize ulwe nokugula.

Ubani othola i-epidermolysis bullosa?

Noma ubani angathola i-epidermolysis bullosa. Kwenzeka kuzo zonke izinhlanga nezinhlanga futhi kuthinta amadoda nabesifazane ngokulinganayo.

Izinhlobo ze-epidermolysis bullosa

Kunezinhlobo ezine eziyinhloko ze-epidermolysis bullosa. Isikhumba sinongqimba olungaphezulu noma lwangaphandle olubizwa ngokuthi i-epidermis kanye ne-dermis layer engaphansi kwe-epidermis. I-membrane yangaphansi yilapho izingqimba zesikhumba zihlangana khona. Odokotela banquma uhlobo lwe-epidermolysis bullosa ngokusekelwe endaweni yezinguquko zesikhumba kanye nokuguqulwa kofuzo okuhlonziwe. Izinhlobo ze-epidermolysis bullosa zihlanganisa:

• I-Epidermolysis bullosa simplex: amabhamuza avela engxenyeni engezansi ye-epidermis.
• I-Borderline epidermolysis bullosa: Amabhamuza avela phezulu kulwelwesi olungaphansi ngenxa yezinkinga zokunamathisela phakathi kwe-epidermis nolwelwesi olungaphansi.
• I-Dystrophic epidermolysis bullosa: Amabhamuza avela ku-dermis engenhla ngenxa yezinkinga zokunamathisela phakathi kolwelwesi olungaphansi kanye nesikhumba esingaphezulu.
• Kindler's syndrome: amabhamuza avela ezingqimbeni eziningana zesikhumba, kuhlanganise nolwelwesi olungaphansi.

Abacwaningi bathole izinhlobo ezingaphezu kuka-30 zalesi sifo, eziqoqwe zaba izinhlobo ezine eziyinhloko ze-epidermolysis bullosa. Ngokwazi kabanzi mayelana nezinhlobo ezincane, odokotela bangagxila ekwelapheni lesi sifo.  

Uhlobo lwesihlanu lwalesi sifo, i-epidermolysis bullosa, yisifo esingavamile sokuzivikela komzimba lapho amasosha omzimba ehlasela uhlobo oluthile lwe-collagen esikhumbeni somuntu. Ngezinye izikhathi lokhu kwenzeka ngesinye isifo, njengesifo samathumbu esivuvukalayo. Akuvamile ukuthi umuthi ubangele isifo. Ngokungafani nezinye izinhlobo ze-epidermolysis bullosa, izimpawu zingavela kunoma iyiphi iminyaka, kodwa abantu abaningi baba nezimpawu phakathi neminyaka ephakathi.

Izimpawu ze-epidermolysis bullosa

Izimpawu ze-epidermolysis bullosa ziyahlukahluka kuye ngohlobo lwe-epidermolysis bullosa. Wonke umuntu onalesi simo unesikhumba esintekenteke esinamabhamuza nezinyembezi kalula. Ezinye izimpawu, ngohlobo kanye ne-subtype, zifaka okulandelayo.

• I-Epidermolysis Bullosa Simplex uhlobo oluvame kakhulu lwesifo. Abantu abane-subtype emnene bahlakulela amabhamuza ezintendeni zezandla zabo nasezinyaweni zabo. Kwezinye, ama-subtypes anzima kakhulu, ama-blister avela kuwo wonke umzimba. Ngokuya nge-subtype yesifo, ezinye izimpawu zingabandakanya:
  • Ukuqina kwesikhumba ezintendeni zezandla nasematheni ezinyawo.
  • Izinzipho eziqinile, eziqinile, noma ezingekho noma izinzipho.
  • Amabhamuza ngaphakathi emlonyeni.
  • Ukushintsha kombala (umbala) wesikhumba.
• I-epidermolysis ye-bullous nodular ngokuvamile esindayo. Abantu abanesimo esibi kakhulu bangase babe namabhamuza avulekile ebusweni, emlonyeni nasemilenzeni, okungase kutheleleke ngegciwane noma kubangele ukuphelelwa amanzi emzimbeni ngenxa yokulahlekelwa uketshezi. Amabhamuza angakhula nasemlonyeni, emphinjeni, emgudwini wokuphefumula ongaphezulu, esiswini, emathunjini, ohlelweni lomchamo, nasezithweni zangasese. Ezinye izimpawu nezinkinga ezihlobene nalesi sifo zingabandakanya:
  • Izinzipho ezimahhadlahhadla neziqinile noma ezingekho nezinzwane.
  • Ukubukeka kwesikhumba esincanyana.
  • Amabhamuza ekhanda noma ukulahleka kwezinwele okunesibazi.
  • Ukungondleki okubangelwa ukungadli ngokwanele kwama-kilojoule namavithamini ngenxa yokuqhuma komlomo nomgudu wamathumbu. 
  • I-Anemia
  • Ukukhula okuhamba kancane kukonke.
  • Uqweqwe lwamazinyo olwakhiwe kabi.
• I-bullous dystrophic epidermolysis inezimpawu ezihluke kancane, kuye ngokuthi isifo sinamandla noma sidlulele; Nokho, abantu abaningi bane-subtype ephindaphindayo.
  • I-subtype ephindaphindayo: Izimpawu zisukela kokuncane kuye kokuqina futhi zingabandakanya:
    • Amabhamuza ngokuvamile avela ezindaweni ezinkulu zomzimba; kwezinye izimo ezinzima, amabhamuza angase avele ezinyaweni, ezindololwaneni nasemadolweni kuphela.
    • Ukulahlekelwa izinzipho noma izinzipho ezimahhadlahhadla noma eziwugqinsi.
    • Ukulimala kwesikhumba, okungabangela isikhumba ukuba sishube noma sibe mncane.
    • Ama-Milia amaqhubu amancane amhlophe esikhumbeni.
    • Ukulunywa
    • I-Anemia
    • Ukukhula okuhamba kancane kukonke.

Izinhlobo ezinzima ze-recessive subtype zingaholela ekubandakanyekeni kwamehlo, ukulahlekelwa amazinyo, ukuqhuma komlomo kanye nomgudu wamathumbu, kanye nokuhlangana kweminwe noma izinzwane. Amathuba okuba nomdlavuza wesikhumba nawo aphezulu. Lo mdlavuza ujwayele ukukhula futhi usabalale ngokushesha kubantu abane-epidermolysis bullosa kunabantu abangenaso lesi simo.

• • I-subtype enamandla kakhulu: Izimpawu zingabandakanya:
    • Amabhamuza kuphela ezingalweni, emilenzeni, ezindololwaneni nasemadolweni.
    • Ukushintsha ukuma kwezipikili noma ukuwa ngaphandle kwezinzipho.
    • Milia.
    • Amabhamuza ngaphakathi emlonyeni.

• I-Kindler syndrome ayinayo i-subtypes, futhi amabhamuza angakheka kuzo zonke izingqimba zesikhumba. Amabhamuza ngokuvamile avela ezingalweni nasemilenzeni futhi, ezimweni ezimbi kakhulu, asakazekela kwezinye izingxenye zomzimba, kuhlanganise nomminzo nesinye. Ezinye izimpawu zihlanganisa isikhumba esincane, esishwabene; izibazi; i-milium; kanye nokuzwela kwesikhumba ekukhanyeni kwelanga.

Izinkinga ze-epidermolysis bullosa

Ukuguqulwa kwezakhi zofuzo (ushintsho) kubazali kubangela izinhlobo eziningi ze-epidermolysis bullosa. Izakhi zofuzo zinokwaziswa okunqumayo ukuthi yiziphi izici ozidlulisela kubazali bakho. Sinamakhophi amabili amaningi ezakhi zethu zofuzo, elilodwa kumzali ngamunye. Abantu abanalesi simo banofuzo olulodwa noma ngaphezulu oluphethe imiyalelo engalungile yokwenza amaprotheni athile esikhumbeni.

Kunezinhlobo ezimbili zamamodeli wefa:

• Okubusayo, okusho ukuthi uthola ikhophi eyodwa evamile kanye nekhophi eyodwa yofuzo olubangela i-epidermolysis bullosa. Ikhophi engavamile yofuzo inamandla noma "ibusa" ikhophi evamile yofuzo, ibangele izifo. Umuntu onoguquko olunamandla unethuba elingama-50% (1 ku-2) lokudlulisela lesi sifo kungane yakhe ngayinye.
• I-Recessive, okusho ukuthi abazali bakho abanaso lesi simo, kodwa bobabili abazali banesakhi sofuzo esingajwayelekile esibangela i-epidermolysis bullosa. Lapho bobabili abazali bephethe izakhi zofuzo ezishintshashintshayo, kunamathuba angama-25% (1 koku-4) okuba nengane enalesi simo sokukhulelwa ngakunye. Kunamathuba angu-50% (oku-2 kwangu-4) okuba nomntwana othola isakhi sofuzo esisodwa esingavamile, okuyenza ibe umthwali. Uma umzali oyedwa enokuguqulwa kofuzo okweqile, zonke izingane zabo zizothwala isakhi sofuzo esingavamile, kodwa ngeke ngempela zibe ne-epidermolysis bullosa.

Abacwaningi bayazi ukuthi i-epidermolysis bullosa etholwe yi-autoimmune disease, kodwa abazi ukuthi yini edala ukuthi umzimba uhlasele i-collagen esikhumbeni somuntu. Kwesinye isikhathi, abantu abanesifo se-autoimmune inflammatory bowel nabo baqala ukuthola i-epidermolysis bullosa. Ezimweni ezingavamile, izidakamizwa zibangela lesi sifo.