Faʻaaogaina pigmenti

Incontcentia pigmenti (IP) o se tulaga seasea paʻu tuʻufaʻatasia e ala i aiga. E afaina ai le paʻu, lauulu, mata, nifo, ma neura.

O le IP e afua mai i le X-fesoʻotaʻi o tupuʻaga ogaoga ogaoga e tupu i luga o se gafa ua taʻua o le IKBKG.

Talu ai o le kenera faaletonu tupu i luga o le X chromosome, o le tulaga e masani ona vaaia i fafine. A tupu i tama, e masani ona oti ai i le fetus ma iʻu ai i le maʻitaga.

Faʻatasi ai ma le paʻu faʻailoga, e 4 laʻasaga. Tamaiti pepe ma IP e fananau mai ma le salalau, faʻamaʻaina eria. I le tulaga 2, pe a faʻamaloloina vaega, e liua i ni patupatu talatala. I le tulaga 3, e alu 'ese le patupatu, ae tuʻua le pogisa o le paʻu, e taʻu o le hyperpigmentation. Ina ua mavae ni nai tausaga, o le paʻu toe foi i le masani. I le tulaga 4, e ono i ai ni vaega o le paʻu lanu lanu (hypopigmentation) e manifinifi.

O le IP e fesoʻotaʻi ma faʻafitauli totonugalemu o neula, e aofia ai:

• Tolo tolopo atinae
• Leiloa gaioi (supa)
• Le atoatoa le malosi o le mafaufau
• Maso maso
• Faoa faamalosi

Tagata e iai IP e ono iai foʻi nifo le lelei, paʻu lauulu, ma faʻafitauli tau vaʻai.

O le fomaʻi o le a faia se faʻamalositino suʻega, vaai i mata, ma tofotofo maso maso.

Atonu e i ai ni tulaga le masani ai ma paʻu i luga o le paʻu, faʻapena foi ma le le masani ai ponaivi. O le suʻega o mata e mafai ona faʻaalia ai le faʻamaʻi mata, strabismus (kolosi mata), poʻo isi faʻafitauli.

Ina ia faʻamaonia le faʻamaoniga, o nei suʻega ono faia:

• Tofotofoga toto
• Biopsy o le paʻu
• CT poʻo le MRI faʻataʻitaʻi o le faiʻai

E leai se faʻapitoa togafitiga mo IP. Togafitiga e faʻatatau i faʻailoga a le tagata lava ia. Mo se faʻataʻitaʻiga, atonu e manaʻomia ni matatioata e faʻaleleia ai le vaʻai. Fomaʻi e mafai ona faatonuina e fesoasoani faʻatonutonu fao poʻo maso maso.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga e uiga i le IP:

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

Ole faʻafefea e se tagata ona faʻamoemoeina i le ogaoga o le tutotonu o neura e aofia ai ma faʻafitauli o mata.

Valaʻau lau tautua pe a fai:

• E i ai sau talaʻaga aiga o IP ma o loʻo mafaufau e fai sau fanau
• O loʻo maua lou alo i faʻailoga o lenei faʻamaʻi

Faʻamatalaga fesoasoani atonu e aoga mo i latou e iai le talafaʻasolopito o aiga o loʻo mafaufau e fai se fanau.

Bloch-Sulzberger faʻamaʻi; Bloch-Siemens syndrome

• Incontinentia pigmenti luga o le vae
• Incontinentia pigmenti luga o le vae

Isalama MP, Roach ES. Neurocutaneous syndromes. I totonu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology i Fomaʻi Faʻataʻitaʻi. 7th ed. Filatelefia, PA: Elsevier; 2016: mata 100.

James WD, Elston DM, Togafitiga JR, Rosenbach MA, Neuhaus IM. Genodermatoses ma anomalies fanau mai. James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews 'Faamaʻi o le Paʻu: Clinical Dermatology. 13th lomiga. Filatelefia, PA: Elsevier; 2020: chap 27.

Thiele EA, Korf BR. Phakomatoses ma tulaga fesoʻotaʻi. I le: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Mataupu Faavae ma Faʻataʻitaʻiga. 6th ed. Filatelefia, PA: Elsevier; 2017: mata 45.