Incontinentia pigmenti

Incontinentia pigmenti (IP) ke boemo bo sa tloaelehang ba letlalo bo fetisoang ke malapa. E ama letlalo, moriri, mahlo, meno le tsamaiso ea methapo.

IP e bakoa ke bofokoli bo boholo ba liphatsa tsa lefutso bo amanang le X bo hlahang liphatseng tsa lefutso tse tsejoang e le IKBKG.

Hobane bofokoli ba lefutso bo hlaha ho X chromosome, boemo bona hangata bo bonoa ho basali. Ha e hlaha ho banna, hangata e kotsi ho lesea le ka popelong mme e fella ka ho senyeheloa ke mpa.

Ka matšoao a letlalo, ho na le mekhahlelo e mene. Masea a nang le IP a hlaha ka libaka tse makatsang, tse nang le makhopho. Mothating oa 2, ha libaka li fola, li fetoha makukuno a mabe. Mothating oa 3, maqhubu aa fela, empa a siea letlalo le letšo, le bitsoang hyperpigmentation. Kamora lilemo tse 'maloa, letlalo le khutlela setloaeling. Mothating oa 4, ho kanna ha ba le libaka tsa letlalo le khanyang (hypopigmentation) le lesesane.

IP e amahanngoa le mathata a methapo ea methapo, ho kenyelletsa:

• Nts'etsopele e liehang
• Ho lahleheloa ke motsamao (ho shoa litho)
• Bokooa ba kelello
• Ho phatloha ha mesifa
• Ho oa

Batho ba nang le IP le bona ba ka ba le meno a sa tloaelehang, ho lahleheloa ke moriri le mathata a pono.

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele, a shebe mahlo,' me a leke motsamao oa mesifa.

Ho ka ba le mekhoa e sa tloaelehang le machachetsi letlalong, hammoho le ho senyeha ha masapo. Ho hlahlojoa mahlo ho ka senola lera la mahlo, strabismus (mahlo a sefapano), kapa mathata a mang.

Ho netefatsa tlhahlobo, liteko tsena li ka etsoa:

• Liteko tsa mali
• Letlalo biopsy
• Tlhatlhobo ea CT kapa MRI ea boko

Ha ho na kalafo e khethehileng bakeng sa IP. Kalafo e etselitsoe matšoao a motho ka mong. Mohlala, ho ka hlokahala likhalase ho ntlafatsa pono. Ho ka 'na ha fanoa ka bongaka ho thusa ho laola ho oela kapa mesifa.

Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka IP:

• Incontinentia Pigmenti International Foundation - www.ipif.org
• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/incontinentia-pigmenti

Hore na motho o sebetsa hantle hakae ho latela boima ba ts'ebetso ea methapo ea methapo le mathata a mahlo.

Bitsa mofani oa hau haeba:

• U na le nalane ea lelapa ea IP mme u nahana ho ba le bana
• Ngoana oa hau o na le matšoao a lefu lena

Tlhabollo ea lefutso e ka ba molemo ho ba nang le nalane ea lelapa ea IP ba nahanang ho ba le bana.

Lefu la Bloch-Sulzberger; Lefu la Bloch-Siemens

• Incontinentia pigmenti leotong
• Incontinentia pigmenti leotong

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James WD, Elston DM, Tšoara JR, Rosenbach MA, Neuhaus IM. Genodermatoses le anomalies congenital. James WD, Elston DM, Tšoara JR, Rosenbach MA, Neuhaus IM, eds. Andrews ’Maloetse a Letlalo: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 27.

Thiele EA, Korf BR. Phakomatoses le maemo a kopaneng. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Melao-motheo le Tloaelo. La 6th. Philadelphia, PA: Elsevier; 2017: khaolo ea 45.