Incontinentia pigmenti

I-Incontinentia pigmenti (IP) yimeko enqabileyo yolusu edluliselwe kwiintsapho. Ichaphazela ulusu, iinwele, amehlo, amazinyo, kunye nenkqubo yovalo.

I-IP ibangelwa sisiphako semfuza esixhumeke ku-X esenzeka kwimfuza eyaziwa njenge-IKBKG.

Ngenxa yokuba isiphene semfuza sivela kwi-X chromosome, imeko ihlala ibonwa kwabasetyhini. Xa isenzeka emadodeni, ihlala iyabulala kwimveku kwaye ikhokelela ekuphumleni komzimba.

Ngeempawu zesikhumba, kukho amanqanaba ama-4. Iintsana ezine-IP zizalwa zinemimandla ene-streaky, blistering iindawo. Kwinqanaba 2, xa iindawo ziphilisa, zijika zibe ngamaqhuma amabi. Kwinqanaba lesi-3, amaqhuma ayahamba, kodwa ashiye ngasemva isikhumba esimnyama, esibizwa ngokuba yi-hyperpigmentation. Emva kweminyaka eliqela, ulusu lubuyela esiqhelweni. Kwinqanaba le-4, kunokubakho iindawo zolusu olunombala okhanyayo (hypopigmentation) esincinci.

I-IP inxulunyaniswa neengxaki zenkqubo ye-neva, kubandakanya:

• Ukulibaziseka kophuhliso
• Ukuphulukana nentshukumo (ukukhubazeka)
• Ukukhubazeka kwengqondo
• Ukudumba kwezihlunu
• Ukuxhuzula

Abantu abane-IP banokuba namazinyo angaqhelekanga, ukulahleka kweenwele, kunye neengxaki zombono.

Umboneleli wezempilo uya kwenza uvavanyo lomzimba, ajonge amehlo, kunye novavanyo lokuhamba kwemisipha.

Kunokubakho iipateni ezingaqhelekanga kunye namadyungudyungu kulusu, kunye nokungaqhelekanga kwethambo. Ukuvavanywa kwamehlo kunokubonisa i-cataract, i-strabismus (amehlo aweleyo), okanye ezinye iingxaki.

Ukuqinisekisa isifo, olu vavanyo lunokwenziwa:

• Uvavanyo lwegazi
• Ulusu lwe-biopsy
• Ukuvavanywa kwe-CT okanye iMRI kwengqondo

Akukho lunyango oluthile lwe-IP. Unyango lujolise kwiimpawu ezizodwa. Umzekelo, iiglasi zinokufuneka ukuphucula umbono. Amayeza anokumiselwa ukunceda ukulawula ukuxhuzula okanye ukuphazamiseka kwemisipha.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya malunga ne-IP:

• I-Incontinentia Pigmenti yamaZiko eSiseko- www.ipif.org
• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/incontinentia-pigmenti

Ukusebenza kakuhle komntu kuxhomekeke kubukrakra bokubandakanyeka kwenkqubo ye-neva kunye neengxaki zamehlo.

Fowunela umnikezeli wakho ukuba:

• Unembali yosapho ye-IP kwaye ucinga ukuba nabantwana
• Umntwana wakho uneempawu zesi sifo

Ingcebiso ngemfuzo kunokuba luncedo kwabo banembali yosapho ye-IP abacinga ngokuba nabantwana.

Isifo seBloch-Sulzberger; Isifo seBloch-Siemens

• I-incontinentia pigmenti emlenzeni
• I-incontinentia pigmenti emlenzeni

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UJames WD, u-Elston DM, nyanga i-JR, i-Rosenbach MA, i-IM ye-Neuhaus. Genodermatoses kunye neziphene lokuzalwa. UJames WD, u-Elston DM, nyanga i-JR, i-Rosenbach MA, i-Neuhaus IM, ii-eds. Izifo zikaAndrews zolusu: Unyango lweKlinikhi. Umhla we-13. IPhiladelphia, PA: Elsevier; 2020: isahluko 27.

Thiele EA, Korf BR. I-Phakomatoses kunye neemeko zokudibana. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, ii-eds. I-Swaiman's Pediatric Neurology: Imigaqo kunye nokuziqhelanisa. Umhla wesi-6. IPhiladelphia, PA: Elsevier; Ngo-2017: isahluko 45.