Epidermolysis Bullosa

I-Junctional epidermolysis bullosa ingabonakala ekuzalweni. Izilonda ezinkulu, ezingavalanga, zivame kakhulu futhi zingabangela ukutheleleka nokulahleka kwezinto eziyimfihlo zomzimba. Ngenxa yalokho, izinhlobo ezinzima zesifo zingabulala.

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) isimo esingavamile esibangela ukuba isikhumba sibe buthakathaka, sibe namabhabha. Amabhabha angabonakala ngenxa yokulimala okuncane, ngisho nokuvela kokushisa, ukuhlwitha noma ukusikwa. Emacaleni anzima, amabhabha angase abonakale ngaphakathi komzimba, njengokugqoka komlomo noma isisu.

Epidermolysis bullosa iyadluliselwa, futhi ngokuvamile ibonakala kubantwana abasebancane noma abancane. Abanye abantu ababonisi izimpawu kuze kube yilapho sebeyingqwele noma abantu abadala abancane.

Epidermolysis bullosa ayinayo imithi, kepha izinhlobo ezilula zingase zithuthuke njengoba umuntu ekhulile. Ukwelashwa kugxile ekunakekeleni amabhabha nokuvimbela amanye amasha.

Izimpawu ze-epidermolysis bullosa zihlanganisa: Isikumba esibuthakathaka esiqubuka kalula, ikakhulukazi ezandleni nasezinzwini Izimpondo ezinzima noma ezingakabi zilungile Amaqhubu ngaphakathi emlonyeni nasehlombe Ukuqubuka kwesikhumba sikazibuthe kanye nokulahleka kwenwele (scarring alopecia) Isikumba esibonakala sincane Amaphambili amancane afana ne-pimple (milia) Izinkinga zamahlombe, njengokudumeka kwamazinyo Ubunzima bokuginya Isikumba esikhaphelayo, esibuhlungu Ngokuvamile amaqhubu e-epidermolysis bullosa aphawulwa ngesikhathi sobukhulu. Kodwa akuvamile ukuthi avele lapho umntwana omncane eqala ukuhamba noma lapho umntwana omdala eqala imisebenzi emisha ebangela ukusuleka okukhulu ezinyaweni. Xhumana nodokotela wakho uma wena noma ingane yakho ithuthukisa amaqhubu ngesizathu esingaziwa. Kubantwana, ukuqubuka okukhulu kungaba yingozi eyingozi. Funani ukunakekelwa kwezokwelapha ngokushesha uma wena noma ingane yakho: Inezingqinamba zokugwinya Inezingqinamba zokuphefumula Ibonisa izimpawu zokutheleleka, njengokushisa, ubuhlungu noma ukukhula kwesikhumba, i-pus, noma iphunga elivela ebuhlungwini, kanye nomkhuhlane noma ukuthandaza

Xhumana nodokotela wakho uma wena noma ingane yakho inezilonda ezingaziwa imbangela yazo. Kubantwana abasebancane, izilonda ezinkulu kakhulu zingaba yingozi eyingozi.

Funani ukunakekelwa okusheshayo kwezokwelapha uma wena noma ingane yakho:

• Inezingqinamba zokugwinya
• Inezingqinamba zokuphefumula
• Ibonisa izimpawu zokutheleleka, njengokushisa, ubuhlungu noma ukukhuluphala kwesikhumba, ithusi, noma iphunga elivela ehlombe, kanye nomkhuhlane noma ukuthithimba

Kuxhomela kwendlela ye-epidermolysis bullosa, ukuqhuma kwamafinyila kungase kwenzeke ebuthongweni eliphezulu lolusu (epidermis), ebuthongweni obungezansi (dermis) noma ebuthongweni obuhlukanisa lezi zombili (basement membrane zone).

Esifo esidluliselwa ngama-autosome adominant, i-gene eshintshile iyi-gene edominant. Ikhona kwenye yama-chromosome angama-sex, okuthiwa ama-autosomes. I-gene eyodwa eshintshile iyadingeka ukuze umuntu athinteke yilolu hlobo lwesimo. Umuntu onesimo se-autosomal dominant—kulesi sibonelo, uyise—unesilinganiso sama-50% sokuthola ingane ethintekile ene-gene eyodwa eshintshile kanye nesilinganiso sama-50% sokuthola ingane engathintekile.

Ukuze ube nesifo se-autosomal recessive, uzuza ama-gene amabili ashintshile, ngezinye izikhathi kubizwa ngokuthi ama-mutations. Uthola elinye kumzali ngamunye. Impilo yabo ayithinteki kakhulu ngoba bane-gene eyodwa eshintshile kuphela. Abathwali ababili banesilinganiso sama-25% sokuthola ingane engathintekile enama-gene amabili angathintekile. Banesilinganiso sama-50% sokuthola ingane engathintekile futhi ingumthwali. Banesilinganiso sama-25% sokuthola ingane ethintekile enama-gene amabili ashintshile.

I-Epidermolysis bullosa simplex ivame ukubonakala ekuzalweni noma ebuntwaneni obuqalayo. Yilona hlobo oluvamile kakhulu futhi olukhulu kunazo zonke. Ukuqhuma kwamafinyila kungaba buthakathaka uma kuqhathaniswa nezinye izinhlobo.

I-Dystrophic epidermolysis bullosa ngokuvamile ibonakala ekuzalweni noma ebuntwaneni obuqalayo. Izinhlobo ezinzima kakhulu zingabangela ulusu olukhanyayo, oluqine kakhulu, ama-scar, kanye nezandla nezinyawo ezingalungile.

I-Epidermolysis bullosa ibangelwa yi-gene elidluliselwa. Ungazuza i-gene yesifo kumzali oyedwa onalesi sifo (autosomal dominant inheritance) noma kubazali bobabili (autosomal recessive inheritance).

Ulusu lukhiqizwe yibanga langaphandle (epidermis) kanye nezingxenye ezingaphansi (dermis). Indawo lapho amaqembu ahlangana khona ibizwa ngokuthi i-basement membrane. Izinhlobo ze-epidermolysis bullosa zichazwa ikakhulukazi yizigaba ezihlukanisayo futhi zakha amafinyila. Ukulimala kolusu kungase kubangelwe ukulimala okuncane, ukushayisana noma lutho neze.

Izinhlobo eziyinhloko ze-epidermolysis bullosa yilezi:

• Epidermolysis bullosa simplex. Lolu uhlobo oluvamile kakhulu. Lubangelwa ukushisa nokugqamile futhi luthuthukela ebuthongweni langaphandle lolusu. Luthinta ikakhulu izandla nezinyawo. Amafinyila aphulukana ngaphandle kokushiya ama-scar.
• Junctional epidermolysis bullosa. Lolu hlobo lungaba nzima, ngamafinyila aqala ebuntwaneni. Ingane enalesi simo ingase ithuthukise ukukhala okukhulu ngenxa yokuthi amafinyila aqhubeka futhi ashiye ama-scar ezintambo zezwi.
• Dystrophic epidermolysis bullosa. Lolu hlobo luhlobene nokuntuleka kwe-gene elikhiqiza i-protein ehlanganisa izigaba zolusu ndawonye. Uma le protein ingapheli noma ayisebenzi kahle, izigaba zolusu ngeke zihlangane kahle. Lingabangela ulusu olukhanyayo. I-mucous membranes ezishaywe isifo ingabangela i-constipation futhi kwenze kube nzima ukudla.
• Kindler syndrome. Lolu hlobo luvame ukubangela amafinyila ezigabeni eziningi futhi ngakho kungase kubukeke kuhlukile kumuntu ngamunye. Amafinyila avame ukubonakala ebuntwaneni noma ebuntwaneni obuqalayo. Lwandisa ukuncipha kwelanga futhi lubangela ulusu olukhanyayo, oluhlangene futhi olunemiqondo.

I-Epidermolysis bullosa acquisita ihlukile kulezi zimo, njengoba ingadluliselwa futhi iyindlala kubantwana.

Ithuluzi elikhulu lokubhekana nokuthuthukiswa kwe-epidermolysis bullosa ukuba nomlando womndeni waleli gciwane.

I-Epidermolysis bullosa ingase ibe nzima ngisho nalapho iphelelwe ukwelashwa, ngakho kubalulekile ukuqaphela izimpawu zezinkinga ngokushesha. Izinkinga zingafaka:

• Ukutheleleka. Isikumba esinezibhebhe singatheleleka ngamabhaktheriya.
• Ukutheleleka kwegazi. I-sepsis kwenzeka lapho amabhaktheriya asuka ekuthelelekeni engena egazini futhi esakazeka emzimbeni wonke. I-sepsis ingasakazeka ngokushesha futhi iholele ekushokeni nasekungaphumeleleni kwamalungu.
• Ukuhlanganiswa kweminwe kanye nokuhlukahluka kwamajozi. Izinhlobo ezinzima ze-epidermolysis bullosa zingabopha ndawonye iminwe noma iinzwane futhi zibangele ukugoba okungavamile kwamajozi (i-contractures). Lokhu kungathinta umsebenzi weminwe, amadolo namahlombe.
• Izinkinga zokudla. Izibhebhe emlonyeni zingenza ukudla kube nzima futhi kuholele ekungondleki kahle nase-anemia, njengamanqanaba aphansi e-ayina egazini. Izinkinga zokudla zingabangela nokulimala okulimazayo okulimazayo nokwanda okunciphile kubantwana.
• I-Constipation. Ubunzima bokuphasa isitulo kungaba ngenxa yezibhebhe ezibuhlungu endaweni yesikhumba. Kungabangelwa nokungangenisi amanzi anele noma ukudla okunamafutha aphezulu, njengotshani nemifino.
• Izinkinga zamahlombe. Ukubola kwamazinyo nezinkinga ngeziqongo ezingaphakathi emlonyeni kuvamile ngezinhlobo ezithile ze-epidermolysis bullosa.
• Umkhuhlane wesikhumba. Abantu abasebasha nabantu abadala abanezinye izinhlobo ze-epidermolysis bullosa baphethwe kakhulu uhlobo lomkhuhlane wesikhumba oluthiwa yi-squamous cell carcinoma.
• Ukufa. Izingane ezincane ezine-junctional epidermolysis bullosa ezinzima ziphethwe kakhulu ukutheleleka nokulahlekelwa amanzi emzimbeni ngenxa yokubhebhetheka okubanzi. Izibhebhe emlonyeni nasehlombe zenza kube nzima ukudla nokuphefumula. Iningi lalezi zinsana aliphili.

Akukwazi ukuvimbela i-epidermolysis bullosa. Kodwa la manyathelo angasiza ekuvimbeleni amabhabhalazi nokutheleleka.

• Phatha ingane yakho ngobumnene. Ingane yakho encane noma umntwana udinga ukuthambiswa, kodwa yiba mnene kakhulu. Ukuthatha ingane ene-epidermolysis bullosa, beka ingane kuwo wonke into ebomvu futhi unike ukwesekwa ngaphansi kwamasende nangemuva komqondo. Ungayiphakamisi ingane ngaphansi kwama-arms.
• Gcina unake kakhulu indawo yedayaphe. Uma ingane yakho igqoka amadayaphe, susa amabhande ahlanganisiwe futhi ugweme ukusula ngezihlanza. Faka idayaphe ngokugqoka okungagqami noma usakaze nge-zinc oxide paste ehlala isikhathi eside.
• Gcina indawo yasekhaya ipholile. Zama ukugcina ikhaya lakho lipholile futhi ukushisa kuhlale kuqondile.
• Gcina isikhumba siwumile. Faka umthambisi ngobumnene njengoba kudingeka usuku lonke.
• Vimbela ukukroba. Sika izinzipho zengane yakho njalo.
• Khuthaza ingane yakho ukuba isebenze. Njengoba ingane yakho ikhula, khuthaza imisebenzi ephansi umngcipheko wokulimaza isikhumba. Ukubhukuda kuyindlela enhle. Kubantwana abanemiklamo ephansi ye-epidermolysis bullosa, bangavikela isikhumba ngokugqoka ibhulukwe elide nama-sleeves emisebenzini yangaphandle.
• Vala izinto ezinzima. Cabanga ngokubeka i-car seat noma i-bathing tub nge-sheepskin, ifomu noma i-towel ehlala isikhathi eside. Ikhofi ebomvu noma isilika ingasetshenziswa njengophahla oluphezulu phezu kokubeka.

Umhlinzeki wakho wezinsizakalo zezempilo angase aqaphele i-epidermolysis bullosa ngokubukeka kwesikhumba. Wena noma ingane yakho ningase nifune ukuhlolwa ukuqinisekisa ukuxilongwa. Izivivinyo zingafaka:

• Ukuthatha isampula yesikhumba sokuqapha nge-immunofluorescence. Ngale ndlela, isampula encane yesikhumba esithintekile noma i-mucous membrane isuswa bese ihlolwa nge-microscope ekhethekile. Isebenzisa ukukhanya okuqhakazayo ukuqaphela izigaba zesikhumba ezihilelekile. Lo mviwo ubuye uqaphele ukuthi amaprotheni adingekayo ekukhuleni kwesikhumba akhona futhi aphilile yini.
• Ukuhlolwa kwe-genetic. Ngale nqubo, umhlinzeki wakho wezinsizakalo zezempilo uthatha isampula encane yegazi bese uyithumela elabhorethri ukuze kwenziwe ukuhlaziywa kwe-DNA.
• Ukuhlolwa ngaphambi kokuzalwa. Imindeni enomlando we-epidermolysis bullosa ingase ifune ukucabangela ukuhlolwa ngaphambi kokuzalwa kanye nokuqondisa nge-genetic.