Incontinentia pigmenti

I-incontinentia pigmenti (IP) yisimo esingajwayelekile sesikhumba esidluliswa ngemindeni. Ithinta isikhumba, izinwele, amehlo, amazinyo, nesistimu yezinzwa.

I-IP ibangelwa ukukhubazeka okukhulu kofuzo okuxhunywe ku-X okwenzeka kufuzo olwaziwa nge-IKBKG.

Ngoba ukukhubazeka kwezakhi zofuzo kwenzeka ku-X chromosome, lesi simo sivame ukubonwa kwabesifazane. Uma kwenzeka kwabesilisa, imvamisa iyabulala embungwini futhi iholela ekuphuphumeni kwesisu.

Ngezimpawu zesikhumba, kunezigaba ezi-4. Izinsana ezine-IP zizalwa zinezindawo ezi-streaky, blistering. Esigabeni 2, lapho izindawo ziphola, ziphenduka izigaxa ezinzima. Esigabeni 3, izigaxa ziyahamba, kepha zishiya isikhumba esimnyama, esibizwa ngokuthi yi-hyperpigmentation. Ngemuva kweminyaka eminingana, isikhumba sibuyela kokujwayelekile. Esigabeni 4, kungahle kube nezindawo zesikhumba esinombala okhanyayo (hypopigmentation) esincanyana.

I-IP ihlotshaniswa nezinkinga zesistimu yezinzwa eziphakathi, kufaka phakathi:

• Intuthuko ebambezelekile
• Ukulahlekelwa ukunyakaza (ukukhubazeka)
• Ukukhubazeka kwengqondo
• Ukudumba kwemisipha
• Ukuquleka

Abantu abane-IP bangaba namazinyo angajwayelekile, ukulahleka kwezinwele, nezinkinga zokubona.

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba, abuke amehlo, futhi avivinye ukunyakaza kwemisipha.

Kungaba namaphethini angajwayelekile kanye namabhamuza esikhunjeni, kanye nokungajwayelekile kwethambo. Ukuhlolwa kwamehlo kungaveza ukwehla kwamehlo, i-strabismus (amehlo awele), noma ezinye izinkinga.

Ukuqinisekisa ukuxilongwa, lezi zivivinyo zingenziwa:

• Ukuhlolwa kwegazi
• Isikhumba biopsy
• I-CT noma i-MRI scan yobuchopho

Akukho ukwelashwa okuqondile kwe-IP. Ukwelashwa kuhloselwe izimpawu zomuntu ngamunye. Isibonelo, izingilazi zingadingeka ukuthuthukisa ukubona. Umuthi ungahle unikezwe ukusiza ukulawula ukubanjwa noma ukuphazamiseka kwemisipha.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-IP:

• Incontinentia Pigmenti International Foundation - www.ipif.org
• Inhlangano Kazwelonke Yezinkinga Ezingajwayelekile - rarediseases.org/rare-diseases/incontinentia-pigmenti

Ukuthi umuntu wenza kahle kangakanani kuya ngobukhulu bokubandakanyeka kwesistimu yezinzwa emaphakathi nezinkinga zamehlo.

Shayela umhlinzeki wakho uma:

• Unomlando womndeni we-IP futhi ucabanga ukuba nezingane
• Ingane yakho inezimpawu zalesi sifo

Ukwelulekwa ngofuzo kungasiza kulabo abanomlando womndeni we-IP abacabanga ukuba nezingane.

Isifo se-Bloch-Sulzberger; I-Bloch-Siemens syndrome

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

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