Kev tsis txaus ntseeg pigmenti

Tus mob hu ua Incontinentia pigmenti (IP) yog ib hom tawv nqaij uas tsis tshua pom muaj dhau los ntawm tsev neeg. Nws cuam tshuam rau daim tawv nqaij, plaub hau, ob lub qhov muag, hniav, thiab lub paj hlwb.

IP tau tshwm sim los ntawm kev tshawb nrhiav kab txuas X-txuas ntxiv cov kev hloov caj ces uas tshwm sim rau cov noob npe hu ua IKBKG.

Vim tias cov gene muaj tshwm sim ntawm X chromosome, tus mob feem ntau pom hauv cov poj niam. Thaum nws tshwm sim hauv Cov txiv neej, nws yog feem ntau ua rau hauv menyuam hauv plab thiab ua rau nchuav menyuam.

Nrog rau cov tsos mob ntawm daim tawv nqaij, muaj 4 theem. Cov me nyuam yaus nrog tus IP yug tau nrog thaj chaw uas muaj khuam khuav thiab muaj npuas. Hauv theem 2, thaum cov chaw kho kom zoo, lawv tig mus ua pob. Hauv theem 3, cov pob ploj mus, tab sis tawm ntawm daim tawv dub tawv, hu ua hyperpigmentation. Tom qab ntau xyoo, daim tawv nqaij rov zoo li qub. Hauv theem 4, tej zaum yuav muaj thaj chaw ntawm cov tawv nqaij sib dua (hypopigmentation) uas hnyav dua.

IP cuam tshuam nrog cov teeb meem hauv lub paj hlwb nruab nrab, suav nrog:

• Ncua kev loj hlob
• Poob ntawm kev txav (tuag tes tuag taw)
• Kev txawj ntse
• Mob leeg pob txha
• Qaug dab peg

Cov neeg nrog IP tseem yuav muaj cov hniav tsis zoo, plob hau, thiab tsis pom kev.

Tus kws kho mob yuav kuaj xyuas lub cev, saib qhov muag, thiab kuaj cov leeg txav.

Tej zaum yuav muaj qhov txawv txav thiab cov hlwv ntawm daim tawv nqaij, nrog rau cov pob txha tsis zoo. Kev kuaj qhov muag yuav pom tias muaj kab mob qhov muag, strabismus (hla qhov muag), lossis lwm yam teeb meem.

Txhawm rau kom paub tseeb tias kev kuaj mob, kev sim no tuaj yeem ua:

• Kuaj ntshav
• Nqaij xyoob tawv nqaij
• CT lossis MRI scan ntawm lub paj hlwb

Tsis muaj kev kho mob tshwj xeeb rau IP. Txoj kev kho yog npaj rau tus neeg cov tsos mob. Piv txwv li, tsom iav tuaj yeem xav tau los txhim kho lub zeem muag. Tshuaj kho mob tuaj yeem kho tau txhawm rau pab tswj qaug dab peg lossis pob txha pob txha pob txha.

Cov peev txheej no tuaj yeem muab cov ntaub ntawv ntau ntxiv txog IP:

• Kev Koom Tes Hauv Tebchaws Incontinentia Pigmenti - www.ipif.org
• Lub Koom Haum Hauv Lub Tebchaws rau Cov Kab Mob Tsis Txaus - rarediseases.org/rare-diseases/incontinentia-pigmenti

Tus neeg tau zoo npaum li cas nyob ntawm qhov mob hnyav ntawm lub hauv nruab nrab lub paj hlwb koom nrog thiab teeb meem qhov muag.

Hu rau koj tus kws khomob yog:

• Koj muaj lub tsev neeg keeb kwm ntawm IP thiab tab tom txiav txim siab muaj me nyuam
• Koj tus menyuam muaj tsos mob ntawm tus mob no

Kev sab laj txog caj ces tej zaum yuav pab tau rau cov neeg muaj keeb kwm tsev neeg IP uas tseem xav muaj menyuam.

Cov tsos mob Bloch-Sulzberger; Cov tsos mob Bloch-Siemens

• Incontinentia pigmenti ntawm ceg
• Incontinentia pigmenti ntawm ceg

Islam MP, Roach ES. Neurocutaneous syndromes. Hauv: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology nyob rau hauv Kev Soj NtsuamCov. 7 tus ed. Philadelphia, PA: Elsevier; 2016: chap 100.

James WD, Elston DM, Kho JR, Rosenbach MA, Neuhaus IM. Genodermatoses thiab congenital anomalies. James WD, Elston DM, Kho JR, Rosenbach MA, Neuhaus IM, eds. Andrews 'Cov Kab Mob Ntawm Cov tawv nqaij: Soj Ntsuam Kev Siv Tshuaj LomCov. 13th ed. Philadelphia, PA: Elsevier; 2020: chap 27.

Thiele EA, Korf BR. Phakomatoses thiab cov phooj ywg sib puag. Hauv: Swaiman KF, Ashwal S, Ferriero DM, li al, eds. Swaiman's Pediatric Neurology: Cov Ntsiab Cai thiab Kev Coj UaCov. 6 tus ed. Philadelphia, PA: Elsevier; 2017: chap 45.