I vunah hian hmun mak tak tak i nei em? (Incontinentia Pigmenti) vang a ni thei ang em?

Hetiang dinhmun hi `(Incontinentia Pigmenti)` emaw `(IP)` emaw tih hi i hre tawh em? He hming i hriat hian a buaithlak deuhin a mak deuh mai thei. Mahse hei hi thupui pawimawh tak kan sawi a ngai a, a chhan chu naupang thenkhat, a bik takin hmeichhe naupangte nghawng thei genetic condition hmuh tur awm lo tak a nih vang a ni. Chuvangin vawiinah hian thumal awlsam takin thil tam tak kan sawi dawn a, chu chu `(Incontinentia Pigmenti)` chu eng nge a nih, a natna lan chhuah dan te, engtin nge a enkawl tih te hi a ni.

`(Incontinentia Pigmenti)` tih hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin sawi ila, Incontinentia Pigmenti hi X-linked dominant genetic disorder a ni. "Aw, doctor, hei hi ka hrethiam lo," tiin i ngaihtuah mai thei. Okay, i ti awlsam lehzual ang u. Genes hmanga inthlak danglam thin condition a ni a, chu chu nu leh pa atanga fate hnena inthlunzawm tihna a ni. Natna pawl pakhat, neurocutaneous disorders an tih zingah a tel a ni. Chumi awmzia chu heng natna chi hrang hrangte hian kan central nervous system (chu chu thluak leh ruhro), vun, mit, ha, leh ruhro (skeletal system) te a nghawng thei tihna a ni .

`(IP)` chungchangah chuan kan genes-a inthlak danglamna (mutations) thenkhat chuan vunah hian zawi zawiin hmul leh patch a rawn lang chhuak thin. Hei hi he natna lan chhuah dan ber leh langsar ber a ni. Heng vunah hian pian tirh lamah hmuh theih a ni a, a chang chuan nau piang atanga kar tlemte hnuah pawh a lo lang thei bawk.

Vunah hian spot chi li a awm!

Heng vun rawng hi pakhat khatin a lang thei a, stage li-ah a lang thei. A châng chuan heng stage-te hi a inrual thei a, a nih loh leh stage pakhat hnu pakhat a lo lang nghal thei bawk. Season inthlak danglam ang maiin ngaihtuah la, mahse a chang chuan season khat chu a dang a intan hmain a tawp thin.

1. Vesicular stage: Hei hi vunah blister te te, sen, tuiin a khat a lo lang thin a ni. Chickenpox laia blisters lo lang te nen an inang hle. Taksa zawng zawngah, a bik takin ke leh ke ruhah streak angin an lang thei.

2. Verrucal stage: Hun kal zelah , blister awmna hmunah chuan wart ang chi, sang tak, sang tak tak a lo lang tan thin. Chûngte chu a châng chuan thla engemaw zât a daih thei bawk.

3. Hyperpigmentation stage: A dawtah chuan vunah hian grey, blue-brown spot a lo lang leh thin. Chûngte chu taksa leh ke ruhteah a lang lo va, marbled pattern emaw, wavy line emaw ang maiin an lang . Heng spot te hi `(Incontinentia Pigmenti)` tih hming an siam chhan pakhat a ni. "Pigmenti" tih awmzia chu pigment tihna a ni. He stage hi kum tam tak chhung a daih thei.

4. Hypopigmentation stage: A tawpah chuan a dum chu a hring, a chang chuan scar ang deuhin a thlak ang . Chûngte chu dam chhûng zawng a daih thei fo.

A pawimawh ber chu mi zawng zawng hian heng hun palite hi hetiang hian an nei vek dawn lo. Mi ṭhenkhat chuan hun khat chauh chu langsar takin an hmu thei a, ṭhenkhat erawh chuan vawi khatah engemaw zat an hmu thei thung.

A tam zawkah chuan IP hi NEMO (NF-kappaB essential modulator) tih gene-a mutation vang a ni. He NEMO gene hi kan taksaa cell function control theitu gene pawimawh tak a ni a, programmed cell death-ah pawh a pui bawk. Vanduaithlak takin IP damdawi chiang tak a la awm lo.

`(Incontinentia Pigmenti)` avanga harsatna awm thei te chu engte nge ni?

IP hi vun natna mai a ni lo. A chang chuan hriselna lama harsatna dang pawh a thlen thei bawk. Chu pawh chu kan hriat chian a pawimawh hle.

Neurological lama harsatna a awm

• Cerebral atrophy a awm thin.
• Thluak lairil a white matter-a khur te te.
• Cerebellar cortex-a nerve cell awmte tihchhiat.

Heng avang hian naupang `(IP)` vei zinga 20% vel chuan a hnuaia natna te hi an nei thei a ni:

• Motor thiamna tlai (e.g., crawling tlai, kal tlai).
• Thinlung lama harsatna (zirna lama harsatna ang chi).
• Muscle chak lohna.
• Fit (seizures) neih.

Mit hmuhna lama harsatna a awm

Naupang \henkhat `(IP)` vei te pawhin mit lamah harsatna an nei thei bawk. Entir nan:

• Mit inzawm (strabismus) a ni.
• Mit (cataract) a awm.
• Thil na tak ṭhenkhatah chuan mit hmuhna hloh vek a awm thei .

Ha lam harsatna a awm

Ha harsatna pawh `(IP)` hmangin kan hmu thei bawk.

• Ha thenkhat chu a bo.
• Ha hi ``peg-shaped`` a ni.
• Ha chhuah hun sawn hlat.

Hei vang hian ha enkawltu hnen atanga thurawn lak a pawimawh hle.

`(Incontinentia Pigmenti Achromians)` tih hi eng nge ni?

Hetiang nena inang deuh deuh dinhmun dang chu `(incontinentia pigmenti achromians)` a ni. Chutah chuan vun hian a rawng hring, a hring (hypopigmented) a hring (wrinkles and streaks) a nei a . `(IP)`-a dark spot ang lo takin he condition hian light-colored spot chauh a nei a ni. Mahse, `(IP)` ang bawkin he natna `(incontinentia pigmenti achromians)` hi nervous system-a harsatna nen pawh a inzawm thei bawk.

Engtin nge `(Incontinentia Pigmenti)` hi enkawl a nih?

Kan sawi tawh ang khan `(IP)` tihdamna bik a la awm lo. Mahse, he natna avanga natna lan chhuah dan leh harsatna awmte control nan hian enkawlna hrang hrang a awm a. Enkawlna chu mimal tinte symptoms a zirin a innghat a ni.

• Skin spots: A tam zawkah chuan heng vun hrui te, a bik takin a tir atanga lo lang blisters leh rough spots te hi enkawl ngai lovin a bo zauh zauh a, tleirawl lai emaw, puitling emaw pawh nise.Chu hmun dum (hyperpigmentation) leh hmun eng (hypopigmentation) te chu rei tak a daih thei a, a chang chuan dam chhung pawh a daih thei bawk. Mahse a tlangpuiin hrehawmna an thlen lo.
• Nervous system symptoms: Seizures, muscle chak lohna, emaw muscle spasm pangngai lo i neih chuan neurologist chuan damdawi leh damdawi hmanrua thenkhat a pe thei che a ni .
• Mit lama harsatna: I mit a ṭha lo a nih chuan, i doctor chuan glasses, damdawi, a nih loh leh, a nasat chuan operation tih a rawt thei a ni .
• Ha lama harsatna: Ha lam harsatna nei te chu Ha lam thiamte hian an enkawl thei a ni. Filling leh denture ang chi thil an ti thei bawk.

`(Incontinentia Pigmenti)` natna hi eng ang nge ni ang? (Prognosis) tih a ni.

Hei hi mi tam tak tan chuan harsatna a ni. IP nei zawng zawng hian harsatna lian tham an nei vek lo. Mi tam tak, a bik takin nausen lai emaw, naupan lai emawa harsatna lian tham nei lote chuan nun pangngai leh hrisel takin an hmang thei a ni. Vunah pigment spot lo langte hi hun kal zelah a bo tlangpui a, a chang chuan a bo vek bawk.

Mahse, mi ṭhenkhat chuan thluak lam leh taksa lama harsatna an nei chhunzawm zel thei a ni. Chuvangin, nangmah emaw i fa emaw hian IP i nei a nih chuan i doctor emaw, genetic counselor emaw nen inbiakna neihpui la, i tan health care plan tha ber tur chu i hriat chian a tha ber.

Tunah hian zirchiangtute chuan IP ang chi neurocutaneous disorder nena inzawm genes te chu khawiah nge an awm tih hriat tumin genetic linkage study an nei mek a ni. Heng genetic mutations te hian thluak leh nervous system hmasawnna leh hnathawh dan a nghawng dan pawh an zirchiang mek bawk. Hetiang zirchianna hian genetic diseases chungchang hi kan hrethiam zawk ang a, nakin lawka enkawlna tur kawng a hawng thei bawk ang.

Hriat reng tur pawimawh ber berte (Take-Home Message) .

• Incontinentia Pigmenti hi thil awm lo, genetic condition a ni a, vun a nghawng ber a, mahse nervous system, mit leh ha te pawh a nghawng thei bawk.
• Skin spot hi stage li-ah a lang thei. Chungte chu hun kal zelah a bo tlangpui.
• Mi zawng zawng hian harsatna lian tham an nei vek lo. Mi tam zawk chuan nun pangngai an hmang thei a.
• Enkawlna chu a natna lan chhuah dan a zirin a innghat a ni. Neurology, ophthalmology, leh dentistry lama specialist-te hnen atangin tanpuina i dil thei a ni.
• Nangmah emaw i fa emaw hian he natna chungchangah hian ngaihtuahna i neih chuan doctor thurawn la nghal rawh. A pawimawh ber chu hlauthawng lo, thu dik tak dawng a, a tul anga enkawlna zawng hi a ni.

He thu hi in tan a tangkai ngei ka beisei. Zawhna i neih chuan zak lo la, Doctor zawt rawh. I tanpui turin kan awm vek a ni.

` Incontinentia Pigmenti, IP, vun natna, thlah natna, NEMO gene, vun hnim, thluak lam natna, naupang natna