Epidermolysis Bullosa

ʻO ka nānā ʻana o Epidermolysis Bullosa

ʻO ka Epidermolysis bullosa kahi pūʻulu o nā maʻi kakaʻikahi kahi e lilo ai ka ʻili i mea palupalu a maʻalahi hoʻi ka pohu. Hiki mai nā waimaka, nā ʻeha, a me nā ʻōhū ma ka ʻili ke hamo a paʻi paha kekahi mea i ka ʻili. Hiki iā lākou ke ʻike ma nā wahi āpau o ke kino. I nā hihia koʻikoʻi, hiki ke hana ʻia nā ʻōhū i loko o ke kino, e like me ka waha, esophagus, ʻōpū, ʻōpū, ʻōpū hanu kiʻekiʻe, ʻōpū, a me nā genital.

ʻO ka hapa nui o ka poʻe me ka epidermolysis bullosa e hoʻoili i ka gene mutated (hoʻololi) mai ko lākou mau mākua. Hoʻololi ka gene mutation i ka hana ʻana o ke kino i nā protein e kōkua i ka hoʻopaʻa ʻana o ka ʻili i kekahi i kekahi a noho ikaika. Inā loaʻa iā ʻoe ka epidermolysis bullosa, ʻaʻole i hana pololei ʻia kekahi o kēia mau protein. ʻAʻole paʻa maʻamau nā ʻili o ka ʻili, no laila e nahae a maʻalahi ka ʻili.

ʻO ka hōʻailona nui o ka epidermolysis bullosa he ʻili palupalu e alakaʻi ai i ka blistering a me ka haehae. Hoʻomaka maʻamau nā hōʻailona o ka maʻi ma ka hānau ʻana a i ʻole i ka wā kamaliʻi a mai ka ʻoluʻolu a i ke koʻikoʻi.

ʻAʻohe mea e ola ai ka maʻi; akā naʻe, ke hoʻomau nei ka poʻe ʻepekema i ka ʻimi ʻana i nā lāʻau lapaʻau kūpono no ka epidermolysis bullosa. Hoʻomaʻamaʻa kāu kauka i nā hōʻailona, ​​​​ʻo ia hoʻi ka hoʻopau ʻana i ka ʻeha, ka mālama ʻana i nā ʻeha i hoʻokumu ʻia e ka mahū a me ka waimaka, a me ke kōkua ʻana iā ʻoe e hakakā i ka maʻi.

ʻO wai ka epidermolysis bullosa?

Hiki i kekahi ke loaʻa i ka epidermolysis bullosa. Loaʻa ia ma nā hui lāhui a me nā lāhui āpau a pili like i nā kāne a me nā wahine.

Nā ʻano o ka epidermolysis bullosa

ʻEhā ʻano nui o ka epidermolysis bullosa. He papa luna a waho paha ka ʻili i kapa ʻia ʻo ka epidermis a me kahi papa dermis e waiho ana ma lalo o ka epidermis. ʻO ka membrane lalo kahi e hui ai nā ʻili o ka ʻili. Hoʻoholo nā kauka i ke ʻano o ka epidermolysis bullosa e pili ana i kahi o nā loli ʻili a me ka mutation gene i ʻike ʻia. ʻO nā ʻano o ka epidermolysis bullosa penei:

• ʻO Epidermolysis bullosa simplex: ʻike ʻia nā ʻōhū ma ka ʻaoʻao haʻahaʻa o ka epidermis.
• Borderline epidermolysis bullosa: Loaʻa nā pōpō ma ka piko o ka membrane basement ma muli o nā pilikia pili ma waena o ka epidermis a me ka membrane basement.
• ʻO Dystrophic epidermolysis bullosa: Loaʻa nā ʻōpala i ka dermis o luna ma muli o nā pilikia pili ma waena o ka membrane basement a me ka dermis luna.
• ʻO Kindler's Syndrome: hiki mai nā ʻōpala ma nā ʻāpana he nui o ka ʻili, me ka membrane lalo.

Ua ʻike nā mea noiʻi ma mua o 30 mau subtypes o ka maʻi, i hui pū ʻia i ʻehā mau ʻano nui o ka epidermolysis bullosa. Ma ka ʻike hou aku e pili ana i nā subtypes, hiki i nā kauka ke nānā aku i ka mālama ʻana i ka maʻi.  

ʻO ke ʻano ʻelima o ka maʻi, loaʻa ka epidermolysis bullosa, he maʻi autoimmune kakaʻikahi kahi e hoʻouka ai ka ʻōnaehana pale o ke kino i kahi ʻano collagen i loko o ka ʻili o ke kanaka. I kekahi manawa, loaʻa kēia me kekahi maʻi ʻē aʻe, e like me ka maʻi ʻeha o ka ʻōpū. Kakaʻikahi ka lāʻau i ka maʻi. ʻAʻole like me nā ʻano ʻē aʻe o ka epidermolysis bullosa, hiki ke ʻike ʻia nā hōʻailona i kēlā me kēia makahiki, akā nui ka poʻe e hoʻomohala i nā hōʻailona ma waena o ka makahiki.

Nā hōʻailona Epidermolysis bullosa

ʻOkoʻa nā hōʻailona Epidermolysis bullosa ma muli o ke ʻano o ka epidermolysis bullosa. He ʻili palupalu ka poʻe me kēia maʻi a hiki ke pohu a waimaka. ʻO nā hōʻailona ʻē aʻe, ma ke ʻano a me ka subtype, e komo pū me kēia.

• Epidermolysis Bullosa Simplex ʻo ia ke ʻano maʻamau o ka maʻi. ʻO ka poʻe me ke ʻano haʻahaʻa haʻahaʻa e hoʻomohala i nā ʻōpala ma nā poho lima a me nā kapuwai. I nā ʻano ʻano ʻē aʻe, ʻike ʻia nā blisters a puni ke kino. Ma muli o ka subtype o ka maʻi, hiki ke komo i nā hōʻailona ʻē aʻe:
  • ʻO ka mānoanoa o ka ʻili ma nā poho lima a me nā wāwae.
  • Kuʻu manamana lima ʻākala, mānoanoa, a nalowale paha.
  • Puka i loko o ka waha.
  • Hoʻololi i ka pigmentation (kala) o ka ʻili.
• Bullous nodular epidermolysis kaumaha maʻamau. Hiki i nā poʻe me ke ʻano koʻikoʻi loa ke loaʻa nā maʻi ʻeha ma ko lākou mau maka, ka lama, a me nā wāwae, hiki ke loaʻa i ka maʻi a i ʻole ke kumu o ka maloʻo nui ma muli o ka pau ʻana o ka wai. Hiki nō hoʻi ke ulu aʻe nā ʻōpala i loko o ka waha, esophagus, ka ʻōpū hanu kiʻekiʻe, ka ʻōpū, ka ʻōpū, ka ʻōnaehana urinary, a me nā genital. ʻO nā hōʻailona ʻē aʻe a me nā pilikia e pili ana i ka maʻi e komo pū ana:
  • Kuʻu manamana lima a mānoanoa a nalowale paha.
  • ʻIke ʻili lahilahi.
  • ʻO nā pohu ma ke poʻo a i ʻole ka lauoho lauoho me ka ʻili.
  • Malnutrition ma muli o ka lawa ʻole o ka ʻai ʻana i nā calorie a me nā huaora ma muli o ka pehu ʻana o ka waha a me ka ʻōpū o ka ʻōpū. 
  • Anemia.
  • Hoʻonui lohi holoʻokoʻa.
  • Hana maikaʻi ʻole ʻia ka enamel niho.
• Bullous dystrophic epidermolysis he mau hōʻailona ʻokoʻa iki, ma muli o ka mana o ka maʻi a i ʻole recessive; akā naʻe, loaʻa i ka hapa nui o ka poʻe he subtype recessive.
  • ʻAno haʻahaʻa hoʻihoʻi: Loaʻa nā hōʻailona mai ka haʻahaʻa a hiki i ke koʻikoʻi a hiki ke komo:
    • ʻIke pinepine ʻia nā ʻōpala ma nā wahi nui o ke kino; i kekahi mau hihia ʻoi aku ka maʻalahi, hiki ke ʻike ʻia nā ʻōpala ma nā wāwae, nā kuʻekuʻe, a me nā kuli.
    • Nalo nā kui a i ʻole nā ​​kui ʻala a mānoanoa paha.
    • ʻO ka ʻili o ka ʻili, hiki ke mānoanoa a lahilahi paha ka ʻili.
    • ʻO Milia he mau puʻupuʻu keʻokeʻo liʻiliʻi ma ka ʻili.
    • ʻAiʻi.
    • Anemia.
    • Hoʻonui lohi holoʻokoʻa.

ʻO nā ʻano koʻikoʻi o ka subtype recessive hiki ke hopena i ka komo ʻana o ka maka, ka nalowale o nā niho, ka poha ʻana o ka waha a me ka ʻōpū o ka ʻōpū, a me ka hui ʻana o nā manamana lima a me nā manamana wāwae. He kiʻekiʻe nō hoʻi ka pilikia o ka ulu ʻana i ka maʻi kanesa ʻili. Ke ulu a laha wikiwiki kēia maʻi kanesa i ka poʻe me ka epidermolysis bullosa ma mua o ka poʻe me ka maʻi ʻole.

• • Subtype mana: Hiki i nā hōʻailona ke komo:
    • Ma nā lima, nā wāwae, nā kuʻekuʻe a me nā kuli wale nō.
    • Hoʻololi i ke ʻano o nā kui a hāʻule paha i waho o nā kui.
    • Milia.
    • Puka i loko o ka waha.

• Kindler syndrome ʻaʻohe ʻano subtypes, a hiki ke hana ʻia nā blisters ma nā papa āpau o ka ʻili. Hōʻike pinepine ʻia nā ʻōpū ma nā lima a me nā wāwae, a i nā hihia koʻikoʻi, hoʻolaha i nā wahi ʻē aʻe o ke kino, me ka esophagus a me ka ʻōpū. ʻO nā hōʻailona ʻē aʻe e pili ana i ka ʻili lahilahi, wrinkled; ʻehaʻeha; milium; a me ka ʻili i ka lā.

Nā kumu o ka epidermolysis bullosa

ʻO nā hoʻololi (hoʻololi) i nā genes i hoʻoili ʻia mai nā mākua ke kumu o ka nui o nā ʻano o ka epidermolysis bullosa. Lawe nā Genes i ka ʻike e hoʻoholo ai i nā ʻano i hāʻawi ʻia iā ʻoe mai kou mau mākua. Loaʻa iā mākou ʻelua kope o ka hapa nui o kā mākou mau genes, hoʻokahi mai kēlā me kēia makua. ʻO ka poʻe me kēia maʻi he hoʻokahi a ʻoi aku paha nā genes e lawe i nā ʻōlelo kuhikuhi hewa no ka hana ʻana i kekahi mau protein i loko o ka ʻili.

ʻElua ʻano hoʻohālike hoʻoilina:

• ʻO Dominant, ʻo ia hoʻi, hoʻoili ʻoe i hoʻokahi kope maʻamau a hoʻokahi kope o ka gene e kumu ai ka epidermolysis bullosa. ʻOi aku ka ikaika o ke kope maʻamau o ka gene a i ʻole ka "hoʻomalu" i ke kope maʻamau o ka gene, e hoʻoulu ai i ka maʻi. He 50% ka manawa (1 i ka 2) o ke kanaka me ka hoʻololi ʻana i ka maʻi i kēlā me kēia o kāna mau keiki.
• Recessive, ʻo ia hoʻi, ʻaʻole i loaʻa i kou mau mākua ke maʻi, akā he ʻano ʻano ʻino ko nā mākua ʻelua e kumu ai ka epidermolysis bullosa. Ke lawe nā mākua ʻelua i nā genes recessive, aia he 25% (1 i ka 4) hiki ke loaʻa ke keiki me ke ʻano o kēlā me kēia hāpai ʻana. He 50% ka manawa (2 o ka 4) no ka hāpai ʻana e loaʻa i kahi pēpē i hoʻoilina i hoʻokahi gene recessive maʻamau, e lilo ia i mea lawe. Inā loa'a ka ho'ololi gene recessive o kekahi makua, e lawe ana ka lakou mau keiki a pau i ka gene anoano, aka, aole e loaa ka epidermolysis bullosa.

Ua ʻike ka poʻe noiʻi he maʻi autoimmune ka epidermolysis bullosa i loaʻa, akā ʻaʻole lākou ʻike i ke kumu e hoʻouka ai ke kino i ka collagen i ka ʻili o ke kanaka. I kekahi manawa, hoʻomohala pū ka poʻe me ka maʻi ʻeha autoimmune epidermolysis bullosa. I nā hihia kakaikahi, nā lāʻau lapaʻau ke kumu o ka maʻi.