Syndrome "pebaldizm": nws yog dab tsi, ua rau, cov tsos mob, mob thiab kev kho mob

Ib tug ntau yam ntawm xim metabolism mob - tsawg syndrome "pebaldizm". Gnozdnym yus heev ntawm cov plaub hau rau nws lub taub hau. Qhov no yog tsis yog ib tug txawm kom hniav zoo nkauj kho raws, tab sis ib cov tsos mob ntawm ib tug loj tus naj npawb ntawm loj cov kab mob.

Nyob rau hauv no tsab xov xwm peb xav txog nyob rau hauv kom meej "pebaldizm". Ua, cov tsos mob, mob, kev kho mob, yuav kuj yuav piav.

Ua rau cov plaub hau bleach

Kev ua txhaum ntawm xim metabolism yog ib tug depigmentation - xim tsis tau, hyperpigmentation - amplification uas tseg tau.

Cov plaub hau xim xim muaj ib tug nqi 2 - eumelinin, pheomelanin. Lawv yog cov nyob rau hauv lub cortex ntawm cov plaub hau. Eumelanin ua plaub hau dub thiab xim av pheomelanin - daj-liab. Lub ua ke ntawm cov pigments nyob rau hauv tus neeg tus xov tooj thiab tus sis nrog cua muab cov plaub hau ib yam xim. Cov plaub hau xim yog txhob kaw programmed.

syndrome "pebaldizm" Yuav ua li cas feem ntau tsis tshwm sim, dab tsi yog tus kab mob no?

Nyob rau hauv kev ua txhaum ntawm lub melanocytes, cov xim-synthesizing cov plaub hau, graying nrog lub hnub nyoog muaj. Yog hais tias tus mob pib thaum ib tug hluas uas muaj hnub nyoog - qhov no yog pov thawj ntawm ib tug kev tshuaj ntsuam genetic kab mob, los yog loj kab mob.

Cov kab mob nyob rau hauv uas suffers pigmentary pauv

Yog vim li cas yog muaj ib tug "pebaldizm" syndrome, yog dab tsi no sib txawv?

Cov nram qab no xeev tsim nyob rau hauv yuam cai ntawm lub melanocytes:

• pebaldizm nyob rau hauv cais daim ntawv;
• albinism;
• pebaldizm ua ke nrog lub qhov muag tus kab mob, pob ntseg, daim tawv nqaij, lub paj hlwb, licas.

soj ntsuam daim duab

Yuav ua li cas nws manifests nws tus kheej "pebaldizm" syndrome, cas nws txhais li cas?

Cov tsis ntawm cov plaub hau xim nyob rau hauv daim ntawv ntawm cov tsos ntawm ib tug dawb curl nyob rau hauv lub taub hau yuav tshwm sim los ntawm kev yug me nyuam rau hauv neeg laus.

Tus hais tam sim no muaj ib tug ua txhaum ntawm xim metabolism, qhov ntau loj qhov ua rau cev ntas txim.

Cais heev curl ua ke nrog ib feem ntawm heev rau koj lub hauv pliaj. Nrog los ntawm cov tsos ntawm foci ntawm hyperpigmentation, t. E. Gnozdnogo darkening ntawm daim tawv nqaij nyob rau hauv qhov chaw ntawm lub plab mog, ncej puab, ob txhais ceg, hauv siab, caj npab ntev ntawm lub 1 hli mus rau 6 lub cm.

Kab Mob lurking qab pebaldizmom

Muaj yog ib tug loj pawg ntawm cov kab mob thiab anomalies ntawm txoj kev loj hlob, sib txuas ua ke nrog rau cov tshuaj dawb tso plaub hau loj kev puas tsuaj nruab nrog cev thiab tshuab. Undiagnosed pathology yuav khaws cia rau lub neej ntawm tus me nyuam thiab cov niam txiv kom xa ib tug ntau ntawm teeb meem.

Waardenburg-Klein syndrome

Tus kab mob yog ib qho autosomal hom qauv ntawm qub txeeg qub teg, piv txwv li. E. Cov tib feem ntau tshwm sim nyob rau hauv cov tub hluas thiab cov ntxhais. Cov kev tshuaj ntsuam genetic defect yuav pub los ntawm yog leej niam leej txiv.

Nyob rau hauv tas li ntawd mus rau lub tshuaj dawb tso ntawm cov plaub hau strands yog cai dav dav thiab ocular ces ntawm tus kab mob.

Ocular cov tsos mob ntawm tus kab mob no:

• hypoplasia ntawm lub plaub muag;
• gray qhov chaw ntawm lub puab pob muag;
• nqaim lub qhov muag txoj kab txiav;
• txawv kob ob lub qhov muag;
• hyperopia;
• lug spaced ob lub qhov muag.

Cov tsos mob tej zaum yuav ua degrees ntawm heev:

• ib nrab albinism;
• sab qhov ntswg choj;
• luv luv stature;
• anomalies ntawm cov hniav;
• lag ntseg-mutism los yog raug rho tsis hnov lus;
• anomalies ntawm lub hauv nruab nrog cev;
• hloov qhov loj ntawm lub pob txha taub hau.

Muab hais tias thaum xub thawj lub heev ntawm tus kab mob thiab tshwm sim xwb yam tsawg kawg nkaus pebaldizmom yuav tsum tau kuaj kom cais loj pathology. Hais tias yog dab tsi piebaldism.

Wolfe lub syndrome

Cais heterochromia, t. E. Ib tug txawv qhov muag xim yog saibxyuas pom nyob rau hauv cov tsiaj. Nyob rau hauv tib neeg, lub zaus ntawm cov tag nrho cov pejxeem yog 1%.

Nto moo neeg uas sib txawv qhov muag xim: Mila Kunis ( "Oz The Great thiab haib", "bloodlines", "Jupiter Ascending"), British actress Dzheyn Seymur, zoo tshaj plaws lub npe hu rau cov zaj duab xis "Nyob thiab Cia Tuag", Devid Boui - British pob zeb singer, songwriter, tsim kom muaj, suab engineer, artist, actor.

Cais heterochrony yog ib tug kab mob, thiab nyob rau hauv ua ke nrog nrog pebaldizmom syndrome hu ua Wolfe, thiab ua rau ib tug ceev ceev-loj hlob lag ntseg.

Yuav kom qha tus kab mob no yuav tsum nrog retinitis pigmentosa - xim epithelium dystrophy qhov muag. Feem ntau Embodiment chav kawm ntawm tus kab mob no - retinitis pigmentosa tsis muaj xim.

Niam thiab tus ntxhais nrog cov syndrome ntawm "pebaldizm"

Tus kab mob yog recessive, chromosome-txuas poj niam qub txeeg qub teg. Ib tug poj niam kis tau cov noob rau nws tus tub, thiab nws muaj ib tug kab mob. Ntxhais ntawm cov txiv neej yog cov noj qab nyob zoo, yog hais tias lawv muaj ib tug noj qab nyob zoo niam. Nws yuav tsum yog tus tsuas manifestation ntawm pebaldizm.

Yog hais tias leej niam yog noj qab nyob zoo clinically, tab sis yog ib cov cab kuj los ntawm cov noob, tus me nyuam yuav muaj mob.

Yuav kom kuaj tau tus kab mob siv ophthalmoscopy, uas qhia txog cov fundus pigmentation me ntsis zoo li npauj-noj.

Gipomelanoz Ito

Tus kab mob muaj los ntawm kev yug me nyuam. Cia cov me nyuam ntawm cov nws kuj nrog sib npaug zaus. Tsis pov thawj raws roj ntsha los kis tau tus mob los ntawm niam txiv rau cov me nyuam, tab sis tus kab mob no yog ib txwm ua ke nrog congenital tsis xws luag ntawm lub hauv nruab nrog cev.

Tus kab mob no yog ua los clinically rau lub hauv paus ntawm cov hauv qab no cov tsos mob:

• tshwm nyob rau hauv daim tawv nqaij amelanotic feem bizarre nyob rau hauv daim ntawv curls, snowflakes;
• Nyob rau palmar, plantar chaw thiab qog ua kua week xws hloov tsis tshwm sim;
• nyob rau hauv lub sab nqaij daim tawv thaj av ntawd ntawm bleached plaub hau chaw nres tsheb - pebaldizm;
• muaj hnub nyoog depigmentation chaw ua tsis tshua pom;
• kev puas tsuaj rau lub paj hlwb yeej ib txwm manifested hlwb ruamqauj, convulsive mob, poob nqaij laus;
• pathology ntawm lub qhov muag tshwm sim strabismus zaubmov heev;
• nrog qhov khoov pob, hauv siab deformation extremities nyob rau hauv 25% ntawm cov neeg;
• nrog ib zaus ntawm 10% ua ke nrog lub plawv tsis xws luag.

Yuav kom qha tus kab mob no los ntawm qhov tsim nyog mob hu ua urinary xim. Lawv muaj xws li cov kev soj ntsuam mob, tab sis tsis ntev los no tau txais.

xim incontinence

Yog ib tug tsis tshua syndrome yog kis tau "pebaldizm"?

Tus kab mob yog kis tau los ntawm leej niam mus rau tus ntxhais. Nyob rau hauv lub heev ntawm tus soj ntsuam daim duab yog manifested los ntawm cov nram qab no cov tsos mob:

• Daim tawv nqaij sawv pob nyob rau hauv daim ntawv ntawm ntev ib daim hlab uas, tom qab kom qhuav thiab tshem tawm ntawm crusts tawm feem pigmentation. Eruptions muaj ib tug undulating chav kawm nrog cov periodic tsos ntawm tshiab daim tawv nqaij hlwb. Los ntawm cov zajlus maturation tus me nyuam poob xim thiab ua daj ntseg.
• Dysplasia thiab hniav configuration, rau tes, plaub hau depigmentation li alopecia thiab mas.
• Neurological mob yog manifested ncua psycho-hais lus txoj kev loj hlob, muaj zog intracranial siab, qaug dab peg, tsis muaj zog nyob rau hauv tej caj npab thiab ob txhais ceg.
• Qhov muag mob yog tsis ruaj tsis khov thiab manifest strabismus, nystagmus, cataracts, txo tsis pom kev zoo, dig muag.

Gristselli syndrome

Qhov no yog ib pab pawg neeg ntawm cov kab mob uas yuav tshwm sim nyob rau hauv peb cov ntaub ntawv, lub ntsiab kev zoo sib thooj yog lub xub ntiag ntawm sis tsuas kob thaj ua rau thaj ntawm cov plaub hau rau nws lub taub hau. Cov nram qab no qhia yog muaj:

• Neurological mob nrog hypopigmentation.
• Cov feem ntau txaus ntshai hom ntawm tus kab mob nyob rau hauv uas "pebaldizm" syndrome coupled nrog impaired hematopoiesis. Soj ntsuam ces: ntsis kub taub hau, paranormal thiab kev kho mob. Siv ua npaws maj tsub kom, koom tsam siab, tus po, cov yuav txo tau ntawm erythrocytes, leukocytes, platelets, fibrinogen nyob rau hauv cov ntshav. Cov yav tas yog muab kev koom tes nyob rau hauv cov txheej txheem ntawm poob siab system.
• hypopigmentation ntawm daim tawv nqaij thiab cov plaub hau ntawm qhov ntau heev, uas txog thaum ces hais tsis muaj kev puas tsuaj ntawm cov ntshav thiab lub paj hlwb. Rau raws sij hawm mob ntawm no txaus ntshai tus kab mob yuav tsum tau nrog ib tug hematologist dermatologist, noob caj noob ces. Nco ntsoov mus rau hauv tus account lub hav zoov ntawm ib tsev neeg los ntawm ntau yam mob ntawm xim metabolism, tus tsom xam mus kaws noob change.

Num thiab kev pheej hmoo ntawm tus kab mob vim lub high zaus combining nws nrog Down syndrome, Edwards, Turner.

Qhia depigmentation ntawm daim tawv nqaij thiab cov plaub hau yuav ua tau thaum yug los, tab sis mus nrhiav kom tau lub xub ntiag ntawm Turner lub syndrome yuav ua tau raws li ib tug neeg loj hlob li tsuas yog thaum khij luv luv stature, lymphostasis, kab mob plawv, ntshav siab, underdeveloped mammary qog, tsis tshua muaj txoj hauj lwm ntawm lub txiv mis, muab los ntawm hauv qhov chaw mos kabmob connective daim ntaub. Txawj ntse nyob rau hauv cov neeg mob no yuav luag tsis raug kev txom nyem, tom qab ob peb vas yog yuav luag ib txwm tsa, muaj ib co zoo zoo siab, uas piav txog ib tug zoo kev sib raug zoo adaptation ntawm cov neeg mob no.

xaus

Nyob rau hauv tib neeg, cov noob ntawm ib txwm pigmentation ntawm daim tawv nqaij yog ib txwm hom nyob rau hauv kev sib raug zoo mus rau lub noob lub luag hauj lwm rau cov ua txhaum ntawm xim metabolism.

Cov yooj yim lub ntsiab lus ntawm cov teeb meem nrog pigmentation yog hais tias lawv yog yus cov cim ntawm chromosomal kab mob, ntau yam congenital malformations.

Tej kev yuam cai ntawm daim tawv nqaij xim metabolism, txheej week, cov plaub hau yuav tsum tau nrog ib tug tshwj xeeb. Peb tau suav hais tias "pebaldizm" syndrome. Yuav ua li cas yog nws, nws los ua tseeb.