Ingabe ubhekene namabala angajwayelekile esikhumbeni sakho? Kungenzeka yini ukuthi kungenxa ye-(Incontinentia Pigmenti)?

Wake wezwa ngalesi simo esibizwa ngokuthi `(Incontinentia Pigmenti)` noma `(IP)`? Mhlawumbe uma uzwa leli gama, lingase lizwakale liyinkimbinkimbi futhi lixakile. Kodwa lesi yisihloko esibalulekile okudingeka sikhulume ngaso, ngoba yisimo esingavamile sofuzo esingathinta ezinye izingane, ikakhulukazi amantombazane. Ngakho-ke namuhla sizokhuluma ngezinto eziningi ngamagama alula, njengokuthi iyini `(Incontinentia Pigmenti)`, yiziphi izimpawu zayo, nokuthi yelashwa kanjani.

Kuyini `(Incontinentia Pigmenti)`? Masikuqonde kalula!

Kalula nje, i-Incontinentia Pigmenti iyisifo sofuzo esixhunyaniswe no-X. Ungase ucabange, "O, dokotela, angikuqondi lokhu." Kulungile, ake sikwenze kube lula nakakhulu. Yisimo esidluliselwa ngama-gene, okusho ukuthi sidluliselwa kusuka kumzali kuya enganeni. Singeqembu lezifo ezibizwa ngokuthi izifo ze-neurocutaneous. Lokhu kusho ukuthi lezi zinhlobo zezifo zingathinta uhlelo lwethu lwezinzwa oluphakathi (okungukuthi, ubuchopho nomgogodla), isikhumba, amehlo, amazinyo, kanye nohlelo lwamathambo .

Uma kwenzeka `(IP)`, izinguquko ezithile (ukuguqulwa kwezakhi zofuzo) ezizakhini zethu zofuzo zibangela ukubonakala kancane kancane kwamabala namabala esikhumbeni. Lolu uphawu oluyinhloko noluvame kakhulu lwalesi sifo. Lawa mabala esikhumbeni angabonakala ekuzalweni, futhi ngezinye izikhathi angabonakala ngisho namasonto ambalwa ngemva kokuzalwa.

Kunezinhlobo ezine zamabala esikhumbeni!

Lezi zindawo zesikhumba zingavela ngayinye ngesikhathi, ngezigaba ezine. Ngezinye izikhathi lezi zigaba zingalandelana, noma isigaba esisodwa singavela ngokushesha ngemva kwesinye. Cabanga ngakho njengokushintshwa kwezinkathi, kodwa ngezinye izikhathi isizini eyodwa iphela ngaphambi kokuba kuqale elandelayo.

1. Isigaba se-Vesicular: Lesi yisikhathi lapho kuvela khona amabhamuza amancane, abomvu, agcwele amanzi esikhumbeni. Afana namabhamuza avela ngesikhathi se-chickenpox. Angavela njengemicu emzimbeni wonke, ikakhulukazi ezithweni.

2. Isigaba sokuma: Ngokuhamba kwesikhathi , amabala anjengezinsumpa, aphakanyisiwe, aphakanyisiwe aqala ukuvela lapho kwakukhona khona amabhamuza. Lawa ngezinye izikhathi angahlala izinyanga eziningana.

3. Isigaba sokushintsha umbala: Okulandelayo, kuvela amabala ampunga, aluhlaza okwesibhakabhaka ansundu esikhumbeni. Lawa avela ngokungajwayelekile emzimbeni nasemalungeni, afana namaphethini amamabula noma imigqa egobile . Lawa mabala angenye yezizathu zokuthi kungani igama elithi `(Incontinentia Pigmenti)` laqanjwa. Igama elithi "Pigmenti" lisho umbala. Lesi sigaba singahlala iminyaka eminingi.

4. Isigaba sokushintsha umbala: Ekugcineni, amabala amnyama azothathelwa indawo amabala akhanyayo, ngezinye izikhathi afana nezibazi . Lawa angahlala impilo yonke.

Into ebalulekile ukuthi akubona bonke abantu abazoba nazo zonke lezi zikhathi ezine ngokulandelana kwalokhu. Abanye abantu bangase babone umzuzu owodwa kuphela ngokusobala, kanti abanye bangase babone eziningana ngesikhathi esisodwa.

Esikhathini esiningi, i-IP ibangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-NEMO (NF-kappaB essential modulator). Le gene ye-NEMO iyizakhi zofuzo ezibalulekile ezisiza ukulawula ukusebenza kweseli emzimbeni wethu futhi zisiza nasekufeni kweseli okuhleliwe. Ngeshwa, akukho ikhambi eliqondile le-IP okwamanje.

Yiziphi izinkinga ezingaba khona ze-`(Incontinentia Pigmenti)`?

I-IP akuyona nje inkinga yesikhumba. Ngezinye izikhathi ingabangela nezinye izinkinga zempilo. Kubaluleke kakhulu kithina ukuthi sikuqaphele lokho.

Izinkinga ze-neurological

• Ukuwohloka kobuchopho.
• Izimbobo ezincane entweni emhlophe enkabeni yobuchopho.
• Ukubhujiswa kwamangqamuzana ezinzwa ku-cerebellar cortex.

Ngenxa yalezi zizathu, cishe ama-20% ezingane ezine-`(IP)` zingase zibe nezimo ezilandelayo:

• Amakhono okunyakaza abambezelekile (isb., ukukhasa okubambezelekile, ukuhamba okubambezelekile).
• Ukukhubazeka kwengqondo (njengokukhubazeka kokufunda).
• Ubuthakathaka bemisipha.
• Ukuba nesithuthwane (ukuxhuzula).

Izinkinga zokubona

Ezinye izingane ezine-`(IP)` nazo zingase zibe nezinkinga zokubona. Isibonelo:

• Amehlo aphambene (strabismus).
• Ama-cataract.
• Kwezinye izimo ezinzima, kungase kube nokulahlekelwa umbono ngokuphelele .

Izinkinga zamazinyo

Izinkinga zamazinyo zingabonakala futhi nge-`(IP)`.

• Amanye amazinyo awekho.
• Amazinyo "afana ne-peg"
• Ukuphuza amazinyo.

Yingakho kubaluleke kakhulu ukufuna iseluleko kudokotela wamazinyo.

Yini `(Incontinentia Pigmenti Achromians)`?

Esinye isimo esifana nalesi yi-`(incontinentia pigmenti achromians)`. Kulokhu, isikhumba siba nemibimbi ekhanyayo, ekhanyayo (engenawo umbala) kanye nemivimbo . Ngokungafani namabala amnyama ku-`(IP)`, lesi simo sinamabala anombala okhanyayo kuphela. Kodwa-ke, njenge-`(IP)`, lesi simo `(incontinentia pigmenti achromians)` singahlotshaniswa nezinkinga ohlelweni lwezinzwa.

Iphathwa kanjani `(Incontinentia Pigmenti)`?

Njengoba sesishilo ngaphambili, akukho ukwelashwa okuqondile kwe-`(IP)` okwamanje. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezitholakalayo zokulawula izimpawu nezinkinga ezibangelwa yilesi simo. Ukwelashwa kunqunywa yizimpawu zomuntu ngamunye.

• Amabala esikhumba: Esikhathini esiningi, lawa mabala esikhumba, ikakhulukazi amabhamuza namabala amabi avela ezigabeni zokuqala, ayanyamalala kancane kancane ngaphandle kokwelashwa, kungaba ngesikhathi sobusha noma sobudala.Lawo mabala amnyama (hyperpigmentation) kanye namabala akhanyayo (hypopigmentation) angahlala isikhathi eside, ngezinye izikhathi impilo yonke. Kodwa ngokuvamile awabangeli ubuhlungu.
• Izimpawu zesimiso sezinzwa: Uma unesifo sokuwa, ubuthakathaka bemisipha, noma ukuqina kwemisipha okungajwayelekile, udokotela wezinzwa angakunikeza imithi kanye namadivayisi athile ezokwelapha .
• Izinkinga zokubona: Uma ungaboni kahle, udokotela wakho angase akuncomele izibuko, imithi, noma, ezimweni ezimbi kakhulu, ukuhlinzwa .
• Izinkinga zamazinyo: Ochwepheshe bezempilo yamazinyo bangelapha izinkinga zamazinyo. Bangenza izinto ezifana nokugcwalisa amazinyo namazinyo okufakelwa.

Impilo izoba njani ngesimo `(Incontinentia Pigmenti)`? (Isibikezelo)

Lokhu kuyinkinga kubantu abaningi. Akuwona wonke umuntu one-IP othola izinkinga ezinkulu. Abantu abaningi, ikakhulukazi labo abangatholi izinkinga ezinkulu ngesikhathi besebancane noma besebancane, bangaphila impilo evamile nenempilo. Amabala e-pigment avela esikhumbeni avame ukunyamalala ngokuhamba kwesikhathi, futhi ngezinye izikhathi anyamalale ngokuphelele.

Kodwa-ke, abanye abantu bangase baqhubeke nokuba nezinkinga zezinzwa nezomzimba. Ngakho-ke, uma wena noma ingane yakho nine-IP, kungcono ukukhuluma nodokotela wakho noma umeluleki wezakhi zofuzo ukuze kutholakale uhlelo lokunakekelwa kwempilo olungcono kakhulu kuwe.

Abacwaningi okwamanje benza izifundo zokuxhumanisa izakhi zofuzo ukuthola ukuthi izakhi zofuzo ezihlobene nezifo ze-neurocutaneous ezifana ne-IP zitholakala kuphi. Bafunda nokuthi lezi zinguquko zezakhi zofuzo zithinta kanjani intuthuko kanye nomsebenzi wobuchopho kanye nesimiso sezinzwa. Ucwaningo olufana nalolu luzosisiza siqonde kabanzi ngezifo zezakhi zofuzo futhi lungavula indlela yokwelashwa kwesikhathi esizayo.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

• I-Incontinentia Pigmenti yisifo esingavamile, esithinta kakhulu isikhumba, kodwa singathinta nesimiso sezinzwa, amehlo namazinyo.
• Amabala esikhumba angavela ngezigaba ezine. Lawa avame ukunyamalala ngokuhamba kwesikhathi.
• Akuwona wonke umuntu obhekana nezinkinga ezinkulu. Iningi labantu lingaphila impilo evamile.
• Ukwelashwa kunqunywa yizimpawu. Ungacela usizo kochwepheshe be-neurology, i-ophthalmology, kanye nodokotela wamazinyo.
• Uma wena noma ingane yakho ninokukhathazeka ngalesi simo, funa iseluleko sezokwelapha ngokushesha. Into ebaluleke kakhulu ukungesabi, ukuthola ulwazi olufanele, nokufuna ukwelashwa okudingekayo.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, ungabi namahloni ubuze udokotela. Sonke silapha ukuzokusiza.

` I-Incontinentia Pigmenti, i-IP, izifo zesikhumba, izifo zofuzo, i-NEMO gene, amabala esikhumba, izifo zezinzwa, izifo zezingane