I naute hian he vun natna hmuh tur awm lo tak hi a nei em? Harlequin Ichthyosis chungchang hi han sawi ila

Nausen piang thar vun hi a tlangpuiin a nem hle a, a nem hle bawk a ni lawm ni? Mahse han ngaihtuah teh, a chang chuan naute thenkhat chu vun natna hmuh tur awm lo tak tak, na deuh deuh neiin an piang thin. Chutiang hmuh tur awm lo, leh a hmasa berah chuan vun natna pakhat chu Harlequin Ichthyosis an ti a. He thu i hriat hian i lungkham deuh mai thei, mahse chipchiar tak leh awlsam takin sawi ila.

Harlequin Ichthyosis tih hi eng nge ni?

A awlsam zawngin sawi ila, Harlequin Ichthyosis hi nau piang tharte vei thei, genetic skin condition a awm lo hle. Naute chu hetiang natna neia a pian hian an taksa pum pui chu vun plate thuk, khauh, hnim hring hring in a khuh vek a ni. Diamond ang maia lian an ni. Heng plate te hi an khauh em avangin an chhe thei a, an peel thei bawk.

Hetianga vun tightness hian naute hmai pianzia pawh a thlak danglam thei a ni. Beng, mitmeng, hnar leh hmui ang chi hmunte chu a inzawm khawm thei a, a tichhe thei bawk. Chu mai pawh ni lovin, ke leh ke incheina pawh a tlem thei a, ei leh thawk pawh a harsa thei bawk.

Kan vun hi kan taksa leh boruak inkara venhimna daltu ang a ni. Mahse he Harlequin Ichthyosis-ah hian naute vunah heng thil dik lo awmte avang hian he venhimna hi a tibuai a ni. Tichuan, harsatna lo awmte chu hetiang hi a ni:

• Taksa atanga tui chhuak chu thunun a harsa ta hle.
• Taksa lumna hi a vawng tha thei lo.
• Infection do theihna a tlahniam.

Hei hian naute chu a dam chhung kar hmasa berah tui tlakchhamna leh natna khirh tak tak, nunna atana hlauhawm tak tak a tuar awlsam zawk a ni. Nau piang thar hun hnuah chuan chu layer thuk tak takte chu a lo hring chhuak zauh zauh a, naute vun zawng zawngah chuan sen leh hnim hring ang maiin a awm ta a ni.

Harlequin Ichthyosis hi vun natna ichthyosis natna khirh ber a ni. Ichthyosis chi hrang hrang 20 chuang a awm a. Entirnan, lamellar ichthyosis leh ichthyosis vulgaris te hi a ni. Tun hma chuan naute Harlequin Ichthyosis vei piangte hi an dam rei lo hle. Mahse, enkawlna sang tak leh damdawi lam enkawlna nasa tak a awm chuan naute chu naupan lai leh tleirawl laia dam khawchhuah theihna chance a sang zawk hle.

He natna hi hming dangin kan hriat a ni:

• Autosomal recessive congenital ichthyosis — Harlequin chi hrang hranga natna hrik awm chu''.
• Harlequin nausen natna
• Harlequin nausen
• Ichthyosis congenita tih a ni
• Ichthyosis nausen natna tih a ni

Hetiang dinhmun hi engtiang chiahin nge a awm?

Hei hi thil awm lo tak a ni. United States ang ramah pawh he natna hian nausen piang 300,000 atanga 500,000 zinga pakhat vel a vei a ni.Hei hi Sri Lanka ramah hian hmuh tur awm lo tak a ni.

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Harlequin Ichthyosis natna lan chhuah dan chu engte nge ni?

Harlequin Ichthyosis vei naute hi a hun hmain an piang fo thin. An pian chuan an taksa chu plate ang maia hrual thuk takin a khuh a. Vun hi a thim em em a, a scale inkarah hian fissure thuk tak a awm thin. Tin, naute mitmeng leh hmui chu a vun a inzawm tlat avangin a chhung lam a inher chhuak bawk. A rilru leh pum hi a inzai nghet a, thawk lak leh ei a harsat phah a ni.

Symptom dang thenkhat chu hetiang hi a ni:

• Hnar flat tak neih.
• Beng chu lu lama inbun ang maiin a awm a.
• Kut leh ke te chu a te a, a hring chhuak thin.
• Hriatna pangngai lo.
• Thluak lam natna vei fo thin.
• Joint mobility tlahniam.
• Taksa lumna hniam.

Eng thilin nge hei hi a thlen?

Harlequin Ichthyosis thlentu ber chu ABCA12 an tih gene a genetic mutation vang a ni. He ABCA12 gene hian kan taksa chu vun cell hrisel tak takte thanlenna atana pawimawh protein siam turin a hrilh a ni. He protein hnathawh pawimawh ber pakhat chu vun pawn lam layer, epidermis-a lipids phurh luh a, venhimna kawngkhar siam hi a ni.

He natna vei te hian taksain ABCA12 protein a siam tlem hle emaw, a siam chhuak lo emaw a ni. Hei hian epidermis hmasawnna pangngai a tibuai a, natna lanchhuahna na tak tak a thlen thin.

Hetiang dinhmun hi autosomal recessive angin a inherit a ni. A awlsam zawngin, hei hian naupangin a natna vei gene copy pahnih a rochun a ngai tihna a ni – pakhat chu nu hnen atangin leh pakhat chu pa hnen atangin. Nu leh pa pahnih hi mutated gene kengtu an ni thei. Chumi awmzia chu gene nei pawh ni se, a tlangpuiin symptom an lantir lo tihna a ni.

Eng harsatna nge awm thei?

Harlequin Ichthyosis natna hi a nasat dan a inang lo thei. Harsatna awm ṭhenkhat chu:

• Sam sei a tlahniam.
• Nail-a deformities awm te.
• Vun hi a na fo thin.
• Khua lum leh vawt tuar harsa.
• Vun natna lo lang leh thin.
• Taksa chhunga electrolyte inthlauhna.
• Muscle, tendons, vun leh tissue dangte tihkhauh leh tihkhauh.
• Thâwk lama harsatna leh hlawhchhamna.
• Sepsis hi bacteria infection rang tak, na tak a ni.

Engtin nge diagnosis hi siam a nih?

Vawi tam tak chu doctor-te chuan naute taksa pianzia a zirin a pian tirh atangin a natna hi an hre thei a ni. Chhungkaw zinga mi pakhatin he natna hi a lo neih tawh chuan naupai laiin prenatal genetic testing tih theih a ni.Doctor-te chuan ABCA12 gene-a mutation awm leh awm loh test an rawt mai thei. Tin, a chang chuan naupai kum hnihna leh pathumna chhunga ultrasound scan an tih hian a natna chhinchhiahna a hmu thei bawk.

Harlequin Ichthyosis hi eng enkawlna nge ni?

Hetiang natna nei naute hi a pian veleh Neonatal Intensive Care Unit (NICU) -ah dah a ni. Chutah chuan naute chu incubator-ah dah a ni a, chu chuan naute taksa lumna control turin a pui a ni. Nurse-te’n naute an enkawl dan chu hetiang hi a ni:

• Nau hnute pek fo.
• I taksa chu silfai fo la, vun a ti nem a, vun a tifai thei bawk.
• Scale lakchhuah nan a chang chuan pumice stone emaw, rough sponge emaw ang chi thil hmangin zawi zawiin hnawih thin ang che.
• Moisturizers hmangin vun a vawt lo a, vun elasticity a pe bawk.

I naute hian Harlequin Ichthyosis natna khirh tak a neih chuan oral retinoid etretinate tih hmangin i enkawl thei ang. He damdawi hian vun sei leh hnim hring chu a paih chhuak thei a ni. Tin, kut zungtang hrual, thawk harsa, rilru thawm, leh ei harsa te ang chi natna lanchhuahna te pawh a ti reh thei bawk. Mahse, heng oral retinoids te hi hun rei tak hman a nih chuan side effect na tak a thlen thei a, chuvangin doctor te chuan i naute hian symptom na tak a neih chuan chauh an hmang thin.

NICU (Intensive Care Unit)-ah enkawl a ni

I naute chu neonatal intensive care unit (NICU)-a a awm lai hian specialist doctor leh nursing staff-te chuan i naute chu uluk takin an enfiah thin. Taksa lum leh vawt, tui level, leh natna kai chhinchhiahna te chu an enfiah reng a ni . Vun a vawt reng theih nan dressing leh ointment bik an hmang thin. A châng chuan, naute chu tube hmanga chaw pek a ngai mai thei.

Damdawi chi hrang hrang

A chunga kan sawi tak oral retinoids bakah hian natna hrik laka invenna tur antibiotics, natna tidamtu, leh a vawt leh hnim hring tihziaawmna tur cream te pawh i mamawh dawn a ni. Heng zawng zawng hi doctor-in a tih angin hman tur a ni.

Hun rei tak enkawlna group

I naute chu vun hring hring a tlak hnuah in lamah i hruai thei a nih pawhin, damdawi lam enkawlna leh enkawl chhunzawm zel i mamawh dawn a ni. Harlequin Ichthyosis hi doctor team hrang hrang puihna a ngai a ni. He team hian:

• Nausen piang thar (Neonatologist) te
• Dermatologist te an ni
• Plastic surgeon te an ni
• Geneticist te chuan an ti a
• Mit lam doctor te
• Otolaryngologist (beng, hnar leh beng lama mithiam) te chuan .
• Taksa lam thiamte
• Orthopedist te pawh an awm
• Ei leh in lama mithiamte

He medical team hian naupang chu a dam chhung zawngin a tul anga enkawlna pek tumin hma an la thin.

Ka fa hian hetiang dinhmun hi a nei a nih chuan eng nge ka beisei theih ang?

Harlequin Ichthyosis hi natna rei tak a ni a, dam chhung enkawl a ngai tihna a ni. Chuvangin, he natna vei bik, dermatologist zawn a pawimawh hle. Hei hian i fa chu a dam chhung zawngin a tul anga enkawlna a dawng thei dawn a ni. Tin , nitin vun enkawl dan tur siam a pawimawh bawk a, chu chuan vun harsatna (scaly, cracked, itchy skin) eng pawh control turin a pui ang. Hetiang tih dan phung hi an dam chhung zawngin an zawm a ngai dawn a ni.

Vun lama harsatna bakah hian naupang kut zungtang leh ke ruhte chu a thim thei a, a nghet thei bawk . Hei hian a tân thil hriatthiam a harsat phah thei a ni. Tin, a ke ruh leh a khup a nghet lo thei bawk a, chu chuan a kal a ti harsa thei bawk. Naupang taksa thanlenna leh thanlennaah pawh tihkhawtlai engemaw zat a awm thei bawk . Mahse, rilru lama hmasawnna chu a pangngaiin a thleng tur a ni.

Hetianga naupang enkawl hi thil harsa tak a ni a, mahse damdawi lam thurawn dik tak, hmangaihna leh dawhtheihna nena chet a pawimawh hle.

He natna hi eng nge a hmalam hun?

Harlequin Ichthyosis enkawlna kawngah hmasawnna nasa tak awm mahse, vanduaithlak takin naute thenkhat chu he natna vang hian an la thi reng a ni. Zirna pakhatah chuan he natna neia piang naute zinga 44% chu an thi a ni. Thla thum chhunga thihna thlentu lian ber chu sepsis, thawk lama harsatna emaw, a pahnih inzawmkhawm emaw a ni.

Mahse, oral retinoids ang chi damdawi hmanga enkawl hmasak hian damchhuahna a tisang tih hmuhchhuah a ni. A hmaa kan sawi tawh zirchiannaah hian naute oral retinoids hmanga enkawl zinga 83% chu an damchhuak a ni.

Harlequin Ichthyosis hi a veng thei ang em?

Hei hi genetic condition a nih avangin ven theih a ni lo. I chhungkuaa mi tu emaw chuan he natna hi a nei a nih chuan, a nih loh leh tun hma pawhin a lo vei tawh a nih chuan, doctor nen genetic testing emaw, genetic counseling emaw chungchang sawipui a tha ang . Chu thu hriat chu fa dang neih chungchânga thu tlûkna siam hunah a ṭangkai thei a ni.

Engtin nge ka fa ka enkawl ang?

I fain he natna hi a neih chuan, a enkawlna atana pui thei tur thil thenkhat chu hetiang hi a ni:

• I fa dinhmun hi ngun takin zir rawh. Source rintlak chhiar la, hemi chungchangah hian mithiam nih tum ang che.
• Naupang chu a hrisel thei ang berin vawng reng ang che.Chaw tha tak tak pe la, exercise an neih tlem theih nan hma la la, a hun takah medical checkup-ah hruai rawh.
• I fa tana tha tur zawng rawh. Naupang tin hi kan danglam vek. Mi pakhat tana hnathawk chu mi dang tan a thawk lo mai thei. Nitin i fa mamawh ang zela vun enkawl dan tur siam rawh.
• Naupang awmna hmun hi ngaihtuah teh. Environment vawt lutuk, vawt lutuk emaw, lum lutuk emaw, chubakah forced air heat,'' te hian naupang vun chu a ti vawt lehzual thei a, a ti chhe zawk bawk. Hei hian naupang hriselna zawng zawng a nghawng thei bawk.
• Mimal vun enkawlna kit vawng reng rawh. I fa mamawh thil, sunscreen, ointment, leh painkillers te dahna bag-ah dah fo ang che.
• I fa chu mawhphurhna engemaw chen pe rawh. Zawi zawiin i fa chuan mahni vun enkawl dan a zir ang. I fate chu anmahni vun enkawlna mamawhnaah mawhphurhna engemaw zat pe rawh.
• Nausen laiin: Vun atanga vun enkawl leh nau hnute pek hi fuih rawh.

I doctor zawh tur zawhna pawimawh

I fain Harlequin Ichthyosis a vei chuan zawhna tam tak i nei mai thei. Doctor hnena zawhna i zawh theih ṭhenkhat chu hetiang hi a ni:

• Harlequin Ichthyosis hi a na em?
• Engvangin nge hei hi ichthyosis chi dang aiin a na zawk?
• Ka fa tan hian eng enkawlna nge i rawt?
• Engtin nge ka fa chu nun pangngaia a awm theih nan ka puih theih ang?
• Naupang dinhmun tichhe thei trigger-te chu engte nge ni a, pumpelh tur?
• Ka fa tan chuan ni chhuahnaah a chhuak a tha zawk lo maw?
• Eng harsatna dang emaw hriselna lama harsatna dang emaw ka fimkhur tur?
• Khawiah nge support network tha tak ka hmuh theih ang?

A tawp berah chuan hei hi hre reng ang che ! (In lama hruai tur thuchah)

I naute hian Harlequin Ichthyosis ang chi natna hlauhawm tak a nei tih i hriat chuan hlauhna leh mangang taka i awm hi thil pangngai a ni. Mahni chauhvin i inhria thei a, eng nge i tih tur tih pawh i hre chiang lo mai thei. Mahse a pawimawh ber chu he natna chungchanga hriatna nei doctor zawn hi a ni. I fa chu a dinhmun enkawl turin an pui thei che a, i mamawh tanpuina leh puihna zawng turin an kaihruai thei bawk che a ni.

Chutiang dinhmun nei naupang nu leh pa dangte nena inbiakna chu chakna nasa tak a ni thei. Thiltawn leh thurawn inhrilhhriatna hmangin, i fate nun ṭha tûra ṭanpui theih dân kawng i zawng thei a ni. I fa chu vun natna hmuh tur awm lo tak nen a khawsa tih hmuh chu thil awlsam a ni lo, mahse hre reng ang che, heng natna neia hlim taka khawsa naupang tam tak an awm. Nangmah chauh i ni lo. Hriatna dik, thlawpna leh hmangaihna dik tak i neih chuan he harsatna hi i hmachhawn thei a ni.

Harlequin Ichthyosis, genetic skin disease, nausen piang thar vun dinhmun, ABCA12 gene, ichthyosis, vun daltu, nausen piang thar enkawlna, retinoids