ichthyosis

Ukuxilongwa kwe-ichthyosis

I-Ichthyosis iqoqo lezimo zesikhumba eziholela esikhumbeni esomile, esilumayo esibukeka sinamahlonyana, simaholoholo, futhi sibomvu. Izimpawu zingasukela kokuncane kuye kwezinzima. I-Ichthyosis ingathinta isikhumba kuphela, kodwa ezinye izinhlobo zesifo zingathinta nezitho zangaphakathi.

Abantu abaningi bazuza i-ichthyosis kubazali babo ngokusebenzisa isakhi sofuzo esiguquliwe (esiguquliwe). Kodwa-ke, abanye abantu bahlakulela uhlobo lwe-ichthyosis (okungelona ufuzo) olutholiwe ngenxa yesinye isimo sezokwelapha noma imithi ethile. Nakuba okwamanje lingekho ikhambi le-ichthyosis, ucwaningo lusaqhubeka futhi ukwelashwa kuyatholakala ukusiza ukulawula izimpawu.

Umbono wabantu abane-ichthyosis uyahlukahluka kuye ngokuthi hlobo luni lwesifo kanye nobukhulu baso. Abantu abaningi abane-ichthyosis badinga ukwelashwa impilo yonke ukuze benze lesi sifo silawuleke.

Ubani othola ichthyosis? 

Noma ubani angathola ichthyosis. Lesi sifo ngokuvamile sidluliselwa kubazali; kodwa-ke, abanye abantu bangase babe ngabokuqala emndenini ukuthuthukisa ichthyosis ngenxa yokuguqulwa kwezakhi zofuzo ezintsha. Abanye abantu bahlakulela uhlobo olutholiwe (okungelona elofuzo) lwe-ichthyosis, oluphumela kwesinye isifo noma umphumela ongaseceleni wezidakamizwa.

Izinhlobo ze-ichthyosis

Kunezibonakaliso ezingaphezu kuka-20 ze-ichthyosis, kuhlanganise nalezo ezenzeka njengengxenye yesinye isifo noma isimo. Odokotela banganquma uhlobo lwe-ichthyosis ngokubheka:

• Ukuguqulwa kofuzo.
• Imodeli yefa ngokuhlaziya izihlahla zomndeni.
• Izimpawu, okuhlanganisa ukuqina kwazo nokuthi yiziphi izitho ezithintayo.
• Iminyaka lapho izimpawu ziqala ukuvela.

Ezinye izinhlobo zezifo ezizuzwa njengefa futhi ezingeyona ingxenye ye-syndrome zihlanganisa okulandelayo:

• Ichthyosis vulgaris uhlobo oluvame kakhulu. Ngokuvamile iqhubeka ngendlela epholile futhi ibonakale ngonyaka wokuqala wokuphila ngesikhumba esomile, esithambile.
• I-Harlequin ichthyosis ivamise ukubonakala lapho izalwa futhi ibangela amashidi aminyene, ama-scaly esikhumba ukuthi amboze wonke umzimba. Lolu hlobo lokuphazamiseka lungathinta ukuma kwezici zobuso futhi lunciphise ukuhamba kwamalunga.
• I-epidermolytic ichthyosis ikhona kusukela ekuzalweni. Izingane eziningi zizalwa zinesikhumba esintekenteke namabhamuza amboze imizimba yazo. Ngokuhamba kwesikhathi, amabhamuza ayanyamalala, futhi ukuxebuka kuvela esikhumbeni. Ingase ibe nokubukeka kwezimbambo ezindaweni zomzimba ezigobile.
• I-Lamellar ichthyosis ikhona kusukela ekuzalweni. Ingane izalwa inolwelwesi oluqinile, olusobala olumboze wonke umzimba olubizwa ngokuthi i-collodion membrane. Phakathi namasonto ambalwa, ulwelwesi luyahlakazeka, bese kuvela amazenga amakhulu amnyama emzimbeni omningi.
• I-Congenital ichthyosiform erythroderma ikhona lapho izalwa. Izingane nazo zivame ukuba ne-collodion membrane.
• I-X-linked ichthyosis ngokuvamile iqala kubafana futhi iqala cishe izinyanga ezi-3 kuya kweziyisi-6 ubudala. Ukuxebuka kuvame ukuba khona entanyeni, ebusweni obuphansi, emzimbeni nasemilenzeni, futhi izimpawu zingase zibe zimbi ngokuhamba kwesikhathi.
• I-erythrokeratoderma eguquguqukayo ivame ukuvela ezinyangeni ezimbalwa ngemva kokuzalwa futhi iqhubekele ebuntwaneni. Iziqephu zesikhumba eziqinile, eziwugqinsi, noma ezibomvu zingase zivele esikhumbeni, ngokuvamile ebusweni, ezinqeni, noma emaphethelweni. Izindawo ezithintekile zingase zisakaze esikhumbeni ngokuhamba kwesikhathi.
• I-progressive symmetric erythrokeratoderma ivamise ukuveza ebuntwaneni ngesikhumba esomile, esibomvu, esinamaxolo emaphethelweni, ezinqeni, ebusweni, emaqakaleni nasezihlakaleni.

Izimpawu ze-ichthyosis

Izimpawu ze-ichthyosis zingasukela kokuncane kuye kwezinzima. Izimpawu ezivame kakhulu zihlanganisa:

• Isikhumba esomile.
• Ukulunywa
• Ukubomvu kwesikhumba.
• Ukuqhekeka kwesikhumba.
• Izikali esikhumbeni sombala omhlophe, ompunga noma onsundu zinokubukeka okulandelayo:
  • Encane futhi ephukile.
  • Izikali ezinkulu, ezimnyama, ze-lamellar.
  • Izikali eziqinile, ezifana nezikhali.

Ngokuya ngohlobo lwe-ichthyosis, ezinye izimpawu zingabandakanya:

• Amabhamuza angaqhuma, abangele amanxeba.
• Ukulahlekelwa izinwele noma ukuqina.
• Amehlo omile nobunzima bokuvala amajwabu amehlo. Ukungakwazi ukujuluka (ukujuluka) ngenxa yokuthi ama-flakes esikhumba avala izindlala zomjuluko.
• Izinkinga zokuzwa.
• Ukujiya kwesikhumba ezintendeni nasematheni ezinyawo.
• Ukuqinisa isikhumba.
• Ubunzima bokugoba amanye amalunga.
• Vula amanxeba ngenxa yokunwaya isikhumba esilumayo.

Izinkinga ze-ichthyosis

Ukuguqulwa kofuzo (izinguquko) kubangela zonke izinhlobo zofuzo ze-ichthyosis. Ukuguqulwa kwezakhi zofuzo eziningi kuye kwabonakala, futhi uhlobo lwefa luncike ohlotsheni lwe-ichthyosis. Abantu bahlala bekhulisa isikhumba esisha futhi belahla isikhumba esidala kukho konke ukuphila kwabo. Kubantu abane-ichthyosis, izakhi zofuzo eziguquliwe zishintsha ukukhula okuvamile nomjikelezo wesikhumba, okwenza amangqamuzana esikhumba enze okukodwa kwalokhu okulandelayo:

• Zikhula ngokushesha kunokuwisa.
• Zikhula ngesilinganiso esivamile kodwa zichitheka kancane.
• Zichitha ngokushesha kunokuba zikhula.

Kunezinhlobo ezahlukene zefa le-ichthyosis, kuhlanganise:

• Okubusayo, okusho ukuthi uthola ikhophi eyodwa evamile kanye nekhophi eyodwa eguquliwe yofuzo oludala ichthyosis. 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 abanazo izimpawu ze-ichthyosis, kodwa bobabili abazali baphethe isakhi sofuzo esisodwa esingavamile, esinganele ukubangela lesi sifo. Lapho bobabili abazali bephethe isakhi sofuzo esifanayo esiguquguqukayo, kukhona amathuba angama-25% (1 kwabangu-4) ekukhulelweni ngakunye okuba nengane ezothola ifa zombili lezi zakhi zofuzo eziguquliwe futhi ibe nesifo. Kunamathuba angu-50% (amabili kwabangu-2) okukhulelwa okuba nengane ethola isakhi sofuzo esisodwa kuphela esiguquliwe, okumenza umthwali wofuzo lwesifo ngaphandle kwezimpawu eziphawulekayo. Uma umzali oyedwa enohlobo oluncibilikayo lwe-ichthyosis enezakhi zofuzo ezimbili eziguquliwe, zonke izingane zabo zizothwala isakhi sofuzo esingajwayelekile kodwa ngokuvamile ngeke zibe nezimpawu eziphawulekayo ze-ichthyosis.
• Kuxhunywe ku-X, okusho ukuthi ukuguqulwa kofuzo kutholakala ku-chromosome yobulili engu-X. Wonke umuntu unama-chromosome ocansi amabili: abesifazane bavamise ukuba nama-X chromosome amabili (XX) kanti abesilisa bavamise ukuba ne-X chromosome eyodwa kanye ne-Y chromosome eyodwa (XY). Umama uhlala edlulisela i-chromosome engu-X, kuyilapho ubaba ekwazi ukudlulisa i-X noma i-Y. Iphethini yefa le-ichthyosis exhunywe ku-X ngokuvamile i-recessive; lokhu kusho ukuthi abesilisa ekuqaleni abane-X chromosome eyodwa badlula ku-X chromosome eguquliwe. Ngenxa yale phethini, abesifazane bavame ukuthinteka, futhi ngokuvamile bane-chromosome eyodwa eguquliwe kanye neyodwa evamile engu-X.
• Kuyazenzekela, okusho ukuthi ukuguqulwa kofuzo kwenzeka ngokungahleliwe ngaphandle komlando womndeni walesi sifo.