I-Congenital pachyonychia

Ukubuka konke kwe-Pachyonychia Congenita

I-Pachyonychia congenita (PC) isifo sofuzo esingavamile kakhulu esithinta isikhumba nezinzipho. Izimpawu zivame ukuvela lapho umuntu ezalwa noma esanda kuzalwa, futhi lesi sifo sithinta abantu babo bonke ubulili kanye nazo zonke izinhlanga nezinhlanga.

I-PC ibangelwa izinguquko ezithinta ama-keratin, amaprotheni ahlinzeka ngokusekela kwesakhiwo kumaseli, futhi ihlukaniswa ngezinhlobo ezinhlanu kuye ngokuthi yiluphi uhlobo lwe-keratin oluqukethe ukuguqulwa. Izimpawu ziyahlukahluka kumuntu nomuntu futhi zincike ohlotsheni, kodwa ukuqina kwezipikili nama-calluses ematheni ezinyawo kwenzeka cishe kuzo zonke izimo. Isibonakaliso esicindezela kakhulu ama-calluses abuhlungu ematheni okwenza ukuhamba kube nzima. Ezinye iziguli zithembele kudondolo, izinduku, noma isihlalo sabakhubazekile ukuze zilawule ubuhlungu lapho zihamba.

Akukho ukwelashwa okuqondile kwe-PC, kodwa kunezindlela zokuphatha izimpawu, kuhlanganise nobuhlungu.

Ubani othola i-congenital pachyonychia?

Abantu abane-congenital pachyonychia banokushintsha kofuzo olulodwa kwezinhlanu ze-keratin. Abacwaningi bathole izinguquko ezingaphezu kuka-115 kulezi zakhi zofuzo ezihlobene nesifo. Kwezinye izimo, i-PCa izuzwa njengefa kubazali, kanti kwabanye awukho umlando womndeni futhi imbangela inguguquko oluzenzakalelayo. Lesi sifo silawula ufuzo, okusho ukuthi ikhophi eyodwa yofuzo oluguquliwe yanele ukuthi idale lesi sifo. I-PC iyivelakancane kakhulu. Lesi sifo sithinta abantu bobulili obubili kanye nazo zonke izinhlanga nezinhlanga.

Izinhlobo ze-pachyonychia yokuzalwa

Kunezinhlobo ezinhlanu ze-pachyonychia congenita futhi zihlukaniswa ngokusekelwe esakhini se-keratin esishintshiwe. Izinzipho eziqinile kanye nama-calluses abuhlungu ematheni ezinyawo zivamile kuzo zonke izinhlobo zesifo, kodwa ukuba khona kwezinye izici kungase kuncike ekutheni isiphi isakhi se-keratin esithintekayo futhi mhlawumbe ekuguquguqukeni okuthile.

Izimpawu ze-congenital pachyonychia

Izimpawu nokuqina kwe-PCa kungahluka kakhulu, ngisho naphakathi kwabantu abanohlobo olufanayo noma emndenini ofanayo. Izimpawu eziningi zivame ukuvela phakathi nezinyanga zokuqala noma iminyaka yokuphila.

Izici ezivame kakhulu ze-PC zifaka:

• Ama-calluses abuhlungu namabhamuza ematheni ezinyawo. Kwezinye izimo, i-callus iyaluma. Ama-calluses namabhamuza nawo angakheka ezintendeni zezandla.
• Izinzipho ezijiyile. Akuzona zonke izipikili ezithintekayo kuzo zonke iziguli ze-PC, futhi kwabanye abantu izipikili aziqinisiwe. Kodwa iningi leziguli lithinte izinzipho.
• ama-cysts izinhlobo ezahlukene.
• Ama-tubercle azungeze izinwele ezindaweni zokungqubuzana, njengokhalo, izinqe, amadolo nezindololwane. Zivame kakhulu ezinganeni futhi zehla ngemva kokuthomba.
• Ukugqoka okumhlophe olimini nangaphakathi ezihlathini.

Izici ze-PC ezingavamile zifaka:

• izilonda emakhoneni omlomo.
• Amazinyo ngesikhathi sokuzalwa noma ngaphambi kokuzalwa.
• Ifilimu emhlophe emphinjeni kuphumela ezwini eliyisihosha.
• Ubuhlungu obukhulu ekulunyweni kokuqala ("i-first bite syndrome"). Ubuhlungu butholakala eduze komhlathi noma izindlebe futhi buhlala imizuzwana engu-15-25 lapho udla noma ugwinya. Kuvame kakhulu ezinganeni ezincane futhi kungabangela ubunzima bokudla kwezinye izingane. Ivamise ukudlula ngesikhathi sokuthomba.

Izimbangela ze-pachyonychia yokuzalwa

I-Pachyonychia congenita ibangelwa ukuguqulwa kwezakhi zofuzo ezifaka ama-keratin, amaprotheni ayizingxenye eziyinhloko zesikhumba, izinzipho nezinwele. Ukuguqulwa kwezakhi zofuzo kuvimbela i-keratin ekubeni yakhe inethiwekhi eqinile yemicu evame ukunikeza amangqamuzana esikhumba amandla nokuqina. Ngenxa yalokho, ngisho nemisebenzi evamile efana nokuhamba ingaholela ekuqhekekeni kwamangqamuzana, ekugcineni kubangele amabhamuza abuhlungu nama-calluses, okuyizimpawu ezithena amandla kakhulu zalesi sifo.