Incontinentia pigmenti

Incontinentia pigmenti (IP) chinhu chisingawanzoitika paganda chinopfuura nemumhuri. Inobata ganda, vhudzi, maziso, meno, uye tsinga system.

IP inokonzerwa neX-inosangana neakakura maseru ekuremara anoitika pane geni inozivikanwa seKBKG.

Nemhaka yekuti urema hwemajini hunoitika pane X chromosome, mamiriro acho anowanzoonekwa muvakadzi. Kana zvikaitika muvanhurume, zvinowanzo kuuraya mumwana uye zvinoguma nekuparara.

Nezviratidzo zveganda, pane zvikamu zvina. Vacheche vane IP vanozvarwa vaine streaky, blistering nzvimbo. Muchikamu chechipiri, kana nzvimbo dzikaporeswa, dzinoshanduka kuita mapundu akaomarara. Muchikamu chechitatu, mapundu anoenda, asi asiya rakasviba ganda, inonzi hyperpigmentation. Mushure memakore akati wandei, ganda rinodzokera pane zvakajairwa. Muchikamu chechina, panogona kuve nenzvimbo dzeganda rakatsvuka ganda (hypopigmentation) yakatetepa.

IP inosangana nezvinetso zvepakati zvehurongwa, kusanganisira:

• Kunonoka kukura
• Kurasikirwa kwekufamba (kuoma mitezo)
• Urema hwekuziva
• Tsandanyama mhasuru
• Kufenda

Vanhu vane IP vanogona zvakare kuve nemazino asina kujairika, kurasikirwa bvudzi, uye matambudziko ekuona.

Anopa hutano anoita bvunzo dzepanyama, otarisa maziso, uye ayedze kufamba kwemhasuru.

Panogona kunge paine asina kujairika mapatani uye mablisters paganda, pamwe nekusagadzikana kwepfupa. Kuongorora kwemaziso kunogona kuratidza makati, strabismus (akayambuka maziso), kana mamwe matambudziko.

Kuti usimbise kuongororwa, bvunzo idzi dzinogona kuitwa:

• Kuongororwa kweropa
• Ganda biopsy
• CT kana MRI scan yehuropi

Iko hakuna chaiyo kurapwa kwe IP. Kurapa kunoitirwa munhu zviratidzo. Semuenzaniso, magirazi anogona kudikanwa kuti uvandudze kuona. Mushonga unogona kunyoreswa kubatsira kudzora kubatika kana mhasuru mhasuru.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve IP:

• Incontinentia Pigmenti International Foundation - www.ipif.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/incontinentia-pigmenti

Kuita zvakanaka kwemunhu kunoenderana nekuomarara kwepakati sisitimu yekubatanidzwa uye matambudziko eziso.

Fonera mupiki wako kana:

• Une nhoroondo yemhuri yeIP uye urikufunga kuve nevana
• Mwana wako ane zviratidzo zvechirwere ichi

Genetic counselling inogona kubatsira kune avo vane nhoroondo yemhuri yeIP vari kufunga kuve nevana.

Bloch-Sulzberger chirwere; Bloch-Siemens chirwere

• Incontinentia pigmenti pagumbo
• Incontinentia pigmenti pagumbo

Islam MP, Roach ES. Neurocutaneous syndromes. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 100.

James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM. Genodermatoses uye kuberekwa anomalies. James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM, eds. Andrews 'Zvirwere zveGanda: Clinical Dermatology. 13 ed. Philadelphia, PA: Elsevier; 2020: chitsiko 27.

Thiele EA, Korf BR. Phakomatoses uye mamiriro akabatana. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Misimboti uye Maitiro. 6th ed. Philadelphia, PA: Elsevier; 2017: chitsamba 45.