Epidermolysis Bullosa

Hiki ke ʻike ʻia ka maʻi Junctional epidermolysis bullosa i ka wā hānau. He mea maʻamau nā ʻeha nui, wehe, a hiki ke alakaʻi i nā maʻi a me ka nalowale o nā wai o ke kino. No laila, hiki ke make nā ʻano koʻikoʻi o ka maʻi.

ʻO ka Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) kahi maʻi maʻamau ʻole e hoʻopilikia ai i ka ʻili palupalu, pupuhi. Hiki ke ʻike ʻia nā pupuhi ma muli o ka hōʻeha iki, ʻoiai mai ka wela, ka hamo ʻana a i ʻole ka ʻūlū ʻana. I nā hihia koʻikoʻi, hiki ke ʻike ʻia nā pupuhi i loko o ke kino, e like me ka papa o ka waha a i ʻole ka ʻōpū.

Ua hoʻoilina ʻia ka Epidermolysis bullosa, a maʻamau ia e ʻike ʻia i nā pēpē a i ʻole nā ​​keiki ʻōpio. ʻAʻole e loaʻa i kekahi poʻe nā hōʻailona a hiki i ko lākou wā ʻōpiopio a i ʻole nā ​​wā ʻōpiopio.

ʻAʻohe lāʻau lapaʻau no ka Epidermolysis bullosa, akā hiki ke hoʻomaikaʻi nā ʻano māmā me ka makahiki. Hoʻokumu ʻia ka mālama ʻana i ka mālama ʻana i nā pupuhi a me ka pale ʻana i nā mea hou.

ʻO nā hōʻailona o ka epidermolysis bullosa e komo pū ana: ʻIli palupalu e pupuhi maʻalahi, ʻoi aku hoʻi ma nā lima a me nā wāwae Nā kui mānoanoa a i ʻole i hana ʻole ʻia Nā pupuhi i loko o ka waha a me ka ʻāʻī Ka pupuhi ʻana o ke poʻo a me ka nalowale o ka lauoho (scarring alopecia) ʻIli e like me ka lahilahi Nā puʻupuʻu liʻiliʻi e like me nā ʻōpū (milia) Nā pilikia niho, e like me ka pala o nā niho Paʻakikī ka ʻai ʻIli ʻūhā, ʻeha Ma ka maʻamau, ua ʻike ʻia nā pupuhi epidermolysis bullosa i ka wā kamaliʻi. Akā ʻaʻole ia he mea maʻamau no lākou ke ʻike ʻia i ka wā e hele mua ai ke keiki i ka hele ʻana a i ʻole i ka wā e hoʻomaka ai ke keiki nui i nā hana hou e hoʻonui ai i ka haʻalulu ma nā papa o nā wāwae. E kelepona i kāu mea mālama ola inā ʻoe a i ʻole kāu keiki e loaʻa nā pupuhi no kahi kumu i ʻike ʻole ʻia. No nā pēpē, hiki i ka pupuhi nui ke hoʻoweliweli i ke ola. E ʻimi koke i ka mālama lapaʻau inā ʻoe a i ʻole kāu keiki: Loaʻa nā pilikia i ka ʻai Loaʻa nā pilikia i ka hanu Hōʻike i nā hōʻailona o ka maʻi, e like me ka mahana, ʻeha a i ʻole ka pehu ʻana o ka ʻili, ka pus, a i ʻole ka ʻala mai ka ʻeha, a me ka mahana a i ʻole ka haʻalulu

E ho'okaʻaʻike aku i kāu mea lawelawe ola kino inā e ulu mai ana nā pūpū ma luna o ʻoe a i ʻole kāu keiki me ke kumu ʻike ʻole. No nā pēpē, hiki i ka pūpū nui ke hoʻoweliweli i ke ola.

E ʻimi koke i ka mālama lapaʻau inā ʻoe a i ʻole kāu keiki:

• Loaʻa nā pilikia i ka ʻai
• Loaʻa nā pilikia i ka hanu
• Hōʻike i nā hōʻailona o ka maʻi, e like me ka ʻili mahana, ʻeha a i ʻole pehu, ka pus, a i ʻole ka ʻala mai ka ʻeha, a me ke kuni a i ʻole ka maloo

Ma muli o ke ʻano o ka epidermolysis bullosa, hiki ke loaʻa nā ʻeha i ka papa luna o ka ʻili (epidermis), ka papa lalo (dermis) a i ʻole ka papa e hoʻokaʻawale ai i nā mea ʻelua (basement membrane zone).

I loko o kahi maʻi autosomal dominant, ʻo ka gene i hoʻololi ʻia he gene dominant ia. Aia ia ma kekahi o nā chromosomes ʻaʻole pili i ka wahine a me ke kāne, i kapa ʻia ʻo autosomes. Hoʻokahi wale nō gene i hoʻololi ʻia e pono ai i kekahi e pilikia i kēia ʻano kūlana. Loaʻa i kahi kanaka me kahi kūlana autosomal dominant—ma kēia laʻana, ka makua kāne—he 50% ka manawa e loaʻa ai iā ia ke keiki i pilikia me hoʻokahi gene i hoʻololi ʻia a me ka 50% ka manawa e loaʻa ai iā ia ke keiki ʻaʻole pilikia.

No ka loaʻa ʻana o kahi maʻi autosomal recessive, e hoʻoilina ʻoe i ʻelua mau gene i hoʻololi ʻia, i kapa ʻia i kekahi manawa he mutations. Loaʻa iā ʻoe kekahi mai kēlā me kēia makua. ʻAʻole pinepine ka pilikia o ko lākou olakino no ka mea hoʻokahi wale nō gene i hoʻololi ʻia a lākou. Loaʻa i nā mea lawe ʻelua he 25% ka manawa e loaʻa ai iā lākou ke keiki ʻaʻole pilikia me ʻelua mau gene ʻaʻole pilikia. Loaʻa iā lākou he 50% ka manawa e loaʻa ai iā lākou ke keiki ʻaʻole pilikia nāna hoʻi he mea lawe. Loaʻa iā lākou he 25% ka manawa e loaʻa ai iā lākou ke keiki i pilikia me ʻelua mau gene i hoʻololi ʻia.

ʻIke pinepine ʻia ka epidermolysis bullosa simplex i ka wā hānau a i ʻole i ka wā kamaliʻi. ʻO ia ka ʻano maʻamau loa a me ka liʻiliʻi loa o ka pilikia. Hiki ke māmā nā ʻeha i ka hoʻohālikelike ʻana me nā ʻano ʻē aʻe.

ʻIke pinepine ʻia ka dystrophic epidermolysis bullosa i ka wā hānau a i ʻole i ka wā kamaliʻi. Hiki i nā ʻano ʻoi aku ka nui o ka pilikia ke alakaʻi i ka ʻili ʻāpala, mānoanoa, nā ʻeha, a me nā lima a me nā wāwae i ʻano ʻole.

Hoʻokumu ʻia ka epidermolysis bullosa e kahi gene i hoʻoilina ʻia. Hiki iā ʻoe ke hoʻoilina i ka gene maʻi mai kekahi makua nona ka maʻi (autosomal dominant inheritance) a i ʻole mai nā makua ʻelua (autosomal recessive inheritance).

Hana ʻia ka ʻili mai kahi papa waho (epidermis) a me kahi papa lalo (dermis). ʻO ka wahi e hui ai nā papa i kapa ʻia ʻo ka basement membrane. Hoʻomaopopo nui ʻia nā ʻano o ka epidermolysis bullosa e nā papa e hoʻokaʻawale a hana i nā ʻeha. Hiki ke lawe mai ka ʻeha ʻili e kahi ʻeha liʻiliʻi, kuʻi a i ʻole ʻaʻohe mea.

ʻO nā ʻano nui o ka epidermolysis bullosa:

• Epidermolysis bullosa simplex. ʻO kēia ka ʻano maʻamau loa. Lawe mai ʻia e ka wela a me ka hamo ʻana a ulu i ka papa waho o ka ʻili. Hoʻopili nui ia i nā pā lima a me nā wāwae. Ho'ōla nā ʻeha me ka ʻole o ka ʻeha.
• Junctional epidermolysis bullosa. Hiki ke koʻikoʻi kēia ʻano, me nā ʻeha e hoʻomaka ana i ka wā kamaliʻi. Hiki i kahi pēpē me kēia kūlana ke loaʻa i kahi kani leo ʻāpala mai ka ʻeha mau a me ka ʻeha o nā kaula leo.
• Dystrophic epidermolysis bullosa. Pili kēia ʻano i kahi hemahema i ka gene e kōkua ana i ka hana ʻana i kahi protein e hoʻopili i nā papa ʻili i hui pū. Inā nalowale kēia protein a i ʻole ʻaʻole hana, ʻaʻole e hui pono nā papa o ka ʻili. Hiki iā ia ke hana i ka ʻili e like me ka lahilahi. Hiki i nā membrane mucous maʻi ke lawe mai i ka constipation a hana i ka paʻakikī e ʻai.
• Kindler syndrome. Hoʻomaka pinepine kēia ʻano i nā ʻeha i nā papa he nui a no laila hiki ke ʻano like ʻole mai ke kanaka a i ke kanaka. Hoʻomaka pinepine nā ʻeha i ka wā kamaliʻi a i ʻole ka wā kamaliʻi. Hoʻonui ia i ka maʻalahi o ka lā a hana i ka ʻili e like me ka lahilahi, mottled a me ka wrinkle.

ʻO ka epidermolysis bullosa acquisita he ʻokoʻa ia mai kēia mau kūlana, no ka mea ʻaʻole ia i hoʻoilina ʻia a he mea maʻamau ʻole ia i nā keiki.

ʻO ka mea pilikia nui loa i ka hoʻomohala ʻana i ka epidermolysis bullosa ka loaʻa ʻana o ka mōʻaukala ʻohana o ka maʻi.

Hiki i ka epidermolysis bullosa ke hoʻopilikia hou aku ʻoiai me ka lāʻau lapaʻau, no laila, he mea nui ke ʻike koke i nā hōʻailona o nā pilikia. ʻO nā pilikia paha e komo pū ai:

• Ka maʻi bacteria. Hiki i ka ʻili pupule ke loaʻa i ka maʻi bacteria.
• Ka maʻi bacteria i loko o ke koko. E kū mai ana ka sepsis i ka wā e komo ai nā bacteria mai kahi maʻi i loko o ke koko a pālahalaha aku i loko o ke kino holoʻokoʻa. Hiki i ka sepsis ke pālahalaha koke a alakaʻi i ka haʻalulu a me ka hāʻule ʻana o nā ʻōnaehana o ke kino.
• Ka hoʻopili ʻana o nā manamanalima a me nā loli i nā hono. Hiki i nā ʻano koʻikoʻi o ka epidermolysis bullosa ke hoʻopili i nā manamanalima a i ʻole nā manamana wāwae a hoʻokumu i ka kūlou ʻole o nā hono (contractures). Hiki i kēia ke hoʻopilikia i ka hana o nā manamanalima, nā kuli a me nā kuʻekuʻe.
• Nā pilikia me ka meaʻai. Hiki i nā pupule i loko o ka waha ke paʻakikī i ka ʻai ʻana a alakaʻi i ka nele o ka meaʻai a me ka anemia, e like me ka haʻahaʻa o ka hao i loko o ke koko. Hiki i nā pilikia me ka meaʻai ke hoʻopilikia i ka ho'ōla ʻana o nā ʻeha a me ka lohi o ka ulu ʻana i nā keiki.
• Ka paʻakikī o ka hāpai ʻana. Hiki i ka paʻakikī o ka hāpai ʻana i ka ʻōpala ma muli o nā pupule ʻeha i ka wahi anal. Hiki nō hoʻi ke hoʻokumu ʻia ma muli o ka ʻai ʻole ʻana i nā wai a i ʻole nā meaʻai kiʻekiʻe-fiber, e like me nā hua a me nā huaʻai.
• Nā pilikia niho. He mea maʻamau ka pala o nā niho a me nā pilikia me nā pūnaehana i loko o ka waha me kekahi mau ʻano o ka epidermolysis bullosa.
• Ka maʻi ʻili kanesa. Loaʻa i nā ʻōpio a me nā mākua me kekahi mau ʻano o ka epidermolysis bullosa ka pilikia nui o kahi ʻano o ka maʻi ʻili kanesa i kapa ʻia ʻo squamous cell carcinoma.
• Ka make. Loaʻa i nā pēpē me ka epidermolysis bullosa junctional koʻikoʻi ka pilikia nui o nā maʻi a me ka nalowale o nā wai kino mai ka pupule ākea. Hiki i nā pupule i loko o ka waha a me ka ʻāʻī ke paʻakikī i ka ʻai ʻana a me ka hanu ʻana. ʻAʻole ola ka nui o kēia mau pēpē.

ʻAʻole hiki ke pale aku i ka epidermolysis bullosa. Akā, hiki i kēia mau hana ke kōkua i ka pale ʻana i nā ʻōpū a me ka maʻi.

• E mālama mālie i kāu keiki. Pono kāu pēpē a i ʻole keiki i ka hānai ʻana, akā e mālie loa. No ka lawe ʻana i kahi keiki me ka epidermolysis bullosa, e kau i ke keiki ma luna o kahi mea palupalu a e kākoʻo ma lalo o nā hoki a ma hope o ka ʻāʻī. Mai hāpai i ke keiki mai lalo o nā lima.
• E mālama pono i ka wahi diaper. Inā komo kāu keiki i nā diaper, e wehe i nā kāʻei elastic a e pale i nā kāwele hoʻomaʻemaʻe. E hoʻokomo i ka diaper me kahi kāhiko ʻole a i ʻole e pālahalaha me kahi papa mānoanoa o ka pākeke zinc oxide.
• E mālama i kahi home anuanu. E ho'āʻo e mālama i kou home i ka anuanu a me ka mahana kūpaʻa.
• E mālama i ka ʻili i ka pulu. E kau mālie i ka moisturizer e like me ka pono i ka lā holoʻokoʻa.
• E pale i ka ʻūhā. E ʻoki mau i nā kui o kāu keiki.
• E paipai i kāu keiki e hana ikaika. I ka ulu ʻana o kāu keiki, e paipai i nā hana e hōʻemi ai i ka pilikia o ka ʻeha ʻili. He koho maikaʻi ka ʻauʻau. No nā keiki me nā ʻano māmā o ka epidermolysis bullosa, hiki iā lākou ke pale i ka ʻili ma ka komo ʻana i nā lole lōʻihi a me nā lima no nā hana ma waho.
• E uhi i nā ʻili paʻakikī. E noʻonoʻo e hoʻopili i kahi noho kaʻa a i ʻole ka wai ʻauʻau me ka huluhulu hipa, foam a i ʻole kahi kāwele mānoanoa. Hiki ke hoʻohana ʻia ka pulupulu palupalu a i ʻole silika ma ke ʻano he papa luna ma luna o ka padding.

Hiki i kāu mea lawelawe ola kino ke ʻike i ka epidermolysis bullosa mai ke ʻano o ka ʻili. Pono paha ʻoe a i ʻole kāu keiki i nā hoʻokolohua e hōʻoia i ka maʻi. ʻO nā hoʻokolohua paha e komo pū ai:

• Biopsy no ka palapala ʻana o ka immunofluorescence. Ma kēia ʻano hana, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻili i pilikia a i ʻole ka membrane mucous a nānā ʻia me kahi microscope kūikawā. Hoʻohana ia i ka mālamalama i hoʻihoʻi ʻia e ʻike i nā papa o ka ʻili i komo. Hoʻomaopopo pū kēia hoʻokolohua inā aia nā protein e pono ai no ka ulu ʻana o ka ʻili a olakino.
• Hoʻokolohua genetika. Ma kēia hoʻokolohua, lawe kāu mea lawelawe ola kino i kahi ʻāpana liʻiliʻi o ke koko a hoʻouna aku i kahi hale hana no ka nānā ʻana i ka DNA.
• Hoʻokolohua ma mua o ka hānau ʻana. Hiki i nā ʻohana me ka mōʻaukala o ka epidermolysis bullosa ke makemake e noʻonoʻo i ka hoʻokolohua ma mua o ka hānau ʻana a me ke kūkākūkā genetika.