Pachyonychia hānau

Ka nānā 'ana o Pachyonychia Congenita

ʻO Pachyonychia congenita (PC) kahi maʻi ʻano lokahi loa e pili ana i ka ʻili a me nā kui. Hōʻike pinepine ʻia nā hōʻailona ma ka hānau ʻana a i ʻole ka wā mua o ke ola, a pili ka maʻi i nā kānaka o nā kāne ʻelua a me nā lāhui a me nā lāhui āpau.

Hoʻokumu ʻia ka PC ma muli o nā mutation e pili ana i nā keratins, nā protein e hāʻawi i ke kākoʻo hoʻonohonoho i nā cell, a ua hoʻokaʻawale ʻia i ʻelima mau ʻano ma muli o ke ʻano keratin i loaʻa i ka mutation. ʻOkoʻa nā hōʻailona mai ke kanaka a ke kanaka a hilinaʻi i ke ʻano, akā ʻo ka mānoanoa o nā kui a me nā calluses ma nā kapuaʻi e hiki mai ana i nā hihia āpau. ʻO ka hōʻailona hoʻonāwaliwali loa ʻo ia nā calluses ʻeha ma nā kapuaʻi e paʻakikī ai ka hele ʻana. Ke hilinaʻi nei kekahi poʻe maʻi i ke koʻokoʻo, koʻokoʻo, a i ʻole ka noho huila e mālama i ka ʻeha ke hele.

ʻAʻohe lāʻau lapaʻau kūikawā no PC, akā aia nā ala e mālama ai i nā hōʻailona, ​​​​me ka ʻeha.

ʻO wai ka mea i loaʻa i ka congenital pachyonychia?

Loaʻa ka hoʻololi ʻana o ka poʻe me ka pachyonychia congenital ma kekahi o nā genes keratin ʻelima. Ua ʻike nā mea noiʻi ma mua o 115 mau hoʻololi i kēia mau genes pili i ka maʻi. I kekahi mau hihia, ua hoʻoili ʻia ʻo PCa mai nā mākua, aʻo nā mea ʻē aʻe ʻaʻohe moʻolelo ʻohana a ʻo ke kumu he hoʻololi kūlohelohe. ʻO ka maʻi maʻi he genetically dominant, ʻo ia hoʻi ua lawa hoʻokahi kope o ka gene mutated e hoʻoulu ai i ka maʻi. He kakaikahi loa ka PC. Hoʻopilikia ka maʻi i nā kānaka o nā kāne ʻelua a me nā hui lāhui a me nā lāhui.

Nā ʻano o ka pachyonychia hānau

ʻElima ʻano o ka pachyonychia congenita a ua hoʻokaʻawale ʻia lākou ma muli o ke ʻano keratin i hoʻololi ʻia. ʻO nā kui mānoanoa a me nā calluses ʻeha ma nā kapuaʻi he mea maʻamau i nā ʻano maʻi āpau, akā hiki ke ʻike ʻia nā hiʻohiʻona ʻē aʻe ma muli o ke ʻano keratin i hoʻopili ʻia a ma muli paha o ka mutation kikoʻī.

Nā hōʻailona o ka congenital pachyonychia

Hiki ke ʻano like ʻole nā ​​hōʻailona a me ka paʻakikī o ka PCa, ʻoiai ma waena o nā poʻe me ka ʻano like a i ʻole ka ʻohana hoʻokahi. ʻIke pinepine ʻia ka hapa nui o nā hōʻailona i nā mahina mua a i ʻole nā ​​makahiki o ke ola.

ʻO nā hiʻohiʻona PC maʻamau ka:

• ʻO nā calluses ʻeha a me nā ʻōpala ma na kapuai wawae. I kekahi mau hihia, ʻeha nā calluses. Hiki ke hana ʻia nā calluses a me nā blisters ma nā lima.
• Nā kui mānoanoa. ʻAʻole pili nā kui a pau i kēlā me kēia maʻi PC, a i kekahi poʻe ʻaʻole mānoanoa nā kui. Akā ʻo ka hapa nui o nā maʻi i hoʻopilikia i nā kui.
• nā ʻōpū nā ʻano like ʻole.
• ʻO nā tubercles a puni ka lauoho ma nā wahi hakakā, e like me ka pūhaka, ka pūhaka, nā kuli a me nā kuʻekuʻe lima. He mea maʻamau ia i nā keiki a emi iho ma hope o ka wā ʻōpio.
• Ka uhi keʻokeʻo ma ke alelo a me loko o nā papalina.

Loaʻa nā hiʻohiʻona PC maʻamau:

• Ma'i ma'i ma'i ma na kihi o ka waha.
• Nā niho i ka wā a ma mua paha o ka hānau ʻana.
• Kiʻiʻoniʻoni keʻokeʻo ma ka ʻāʻī ka hopena o ka leo haʻahaʻa.
• ʻEha nui i ka nahu mua ʻana (“first bite syndrome”). Aia ka ʻeha ma kahi kokoke i ka ʻauwae a i ʻole nā ​​​​pepeiao a lōʻihi 15-25 kekona ke ʻai a ʻai paha. He mea maʻamau ia i nā keiki liʻiliʻi a hiki ke hoʻopilikia i ka hānai ʻana i kekahi mau pēpē. Hele maʻamau i ka wā ʻōpio.

Nā kumu o ka congenital pachyonychia

Hoʻokumu ʻia ka Pachyonychia congenita ma muli o ka hoʻololi ʻana i nā genes e hoʻopaʻa inoa no nā keratins, nā protein i nā mea nui o ka ʻili, nā kui, a me ka lauoho. ʻO ka hoʻololi ʻana e pale i nā keratins mai ka hoʻokumu ʻana i ka pūnaewele ikaika o nā filament e hāʻawi maʻamau i ka ikaika a me ke kūpaʻa. ʻO ka hopena, ʻo nā hana maʻamau e like me ka hele wāwae hiki ke alakaʻi i ka haki ʻana o ke kelepona, a hiki i ka hopena i ka ʻeha ʻeha a me nā calluses, ʻo ia nā hōʻailona hoʻonāwaliwali loa o ka maʻi.