Pahu hoʻohenehene

ʻO ka incontcentia pigmenti (IP) kahi ʻano ʻili laha ʻole i hoʻoili ʻia e nā ʻohana. Hoʻopili ia i ka ʻili, ka lauoho, nā maka, nā niho, a me nā ʻōnaehana.

Hoʻokumu ʻia ʻo IP e kahi kīnā kūpuna i hoʻopili ʻia me X i kū ʻia ma kahi ʻāpana i ʻike ʻia ʻo IKBKG.

Ma muli o ka hewa o ka gen ma ka X chromosome, ʻike pinepine ʻia ke ʻano i nā wahine. Ke hiki i nā kāne, make pinepine ia i ka fetus a hopena i ka hāpai keiki ʻole.

Me nā ʻōuli o ka ʻili, aia nā hanana 4. Hānau ʻia nā pēpē me IP me nā ʻāpana streaky, blaming. I ka pae 2, ke hoʻōla nā wahi, huli lākou i mau puʻupuʻu ʻoʻoleʻa. I ke kahua ʻekolu, hele aku nā ʻōpuʻu, akā haʻalele i ka ʻeleʻele pouli, i kapa ʻia ʻo hyperpigmentation. Ma hope o kekahi mau makahiki, hoʻi ka ʻili i ka maʻamau. I ke kahua ʻehā, aia paha he mau ʻili o ka ʻili māmā o ka ʻili (hypopigmentation) ʻoi aku ka lahilahi.

Pili ka IP me nā pilikia ʻōnaehana kikowaena, me:

• Hoʻolālā hoʻolālā lohi
• Lilo o ka neʻe ʻana (paralysis)
• Kīnā ʻole o ka noʻonoʻo
• ʻAskeke mākala
• Ka hopu ʻana i nā maʻi

Loaʻa paha i ka poʻe me ka IP nā niho ʻino, ka nalo ʻana o ka lauoho, a me nā pilikia ʻike.

E hana ka mea mālama ola i kahi hoʻokolohua kino, e nānā i nā maka, a hoʻāʻo i ka neʻe ʻana o nā mākala.

Aia paha nā lauana a me nā palapū i ka ʻili, a me nā ʻano iwi ʻole. Hōʻike paha kahi hoʻokolohua maka i nā cataract, strabismus (nā maka i kuʻi ʻia), a i ʻole nā ​​pilikia ʻē aʻe.

E hōʻoia i ka hōʻoia, e hana ʻia kēia mau hoʻokolohua:

• Nā hoʻāʻo koko
• ʻ biiwi lāʻau
• CT a scan MRI paha o ka lolo

ʻAʻohe mālama pilikino no IP. Hoʻopaʻa ʻia ka mālama ʻana i kēlā me kēia ʻōuli. ʻO kahi laʻana, pono paha nā aniani e hoʻomaikaʻi i ka ʻike. Kau ʻia ka lāʻau e kōkua i ke kāohi ʻana i ka hopu ʻana a i ʻole nā ​​spasms muscle.

Hiki i kēia mau kumuwaiwai ke hāʻawi i ka ʻike hou aku e pili ana i IP:

• ʻO Incontcentia Pigmenti International Foundation - www.ipif.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/incontcentia-pigmenti

Ma ke ʻano o ka hilinaʻi ʻana o ke kanaka i ka nui o ke komo ʻana o ka ʻōnaehana nūnū a me nā pilikia o ka maka.

Kāhea i kāu mea hāʻawi inā:

• Loaʻa iā ʻoe kahi moʻolelo ʻohana o IP a ke noʻonoʻo nei i ka hānau keiki
• He ʻōuli ko kāu keiki i kēia maʻi

He mea kōkua paha ke aʻo ʻana kūmole no ka poʻe me ka mōʻaukala ʻohana o IP e noʻonoʻo nei i ka loaʻa ʻana o nā keiki.

Bloch-Sulzberger maʻi maʻi; Bloch-Siemens maʻi maʻi

• ʻO Incontinentia pigmenti ma ka wāwae
• ʻO Incontinentia pigmenti ma ka wāwae

ʻO MP Islam, Roach ES. Nā syndrome Neurocutaneous. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 100.

James WD, Elston DM, Hana iā JR, Rosenbach MA, Neuhaus IM. Nā genodermatoses a me nā anomalies hānau. James WD, Elston DM, mālama iā JR, Rosenbach MA, Neuhaus IM, eds. Nā maʻi o Andrews 'o ka ʻili: Dermatology Haumāna. 13th ed. Piladelapia, PA: Elsevier; 2020: chap 27.

ʻO Thiele EA, Korf BR. ʻO Phakomatoses a me nā kūlana pili. I: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. ʻO Swaiman's Pediatric Neurology: Nā Kumuhana a me nā Hana. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2017: chap 45.