Ib yam ntawm cov xim pigment metabolism tsis zoo yog qhov tsis tshua muaj "piebaldism" syndrome. Nws yog characterized los ntawm patchy discoloration ntawm cov plaub hau ntawm lub taub hau. Qhov no yog deb ntawm qhov tsis zoo ntawm cov tshuaj pleev ib ce, tab sis cov tsos mob ntawm cov kab mob loj heev.
Nyob rau hauv kab lus no peb yuav xav txog "piebaldism" kom ntxaws. Ua rau, tsos mob, kuaj mob, kev kho mob kuj yuav piav qhia.
Ua rau cov plaub hau bleaching
Kev ua txhaum ntawm cov pigment metabolism tshwm sim nyob rau hauv daim ntawv ntawm depigmentation - poob pigment, hyperpigmentation - nce staining.
Hauv cov xim plaub hau, 2 pigments teeb meem - eumelinin, pheomelanin. Lawv nyob rau hauv lub cortical txheej ntawm cov plaub hau. Eumelanin muab cov plaub hau dub-xim av, pheomelanin daj-liab. Kev sib xyaw ua ke ntawm cov xim no hauv ib tus neeg kom muaj nuj nqis thiab kev sib cuam tshuam nrog huab cua muab cov plaub hau ib qho xim. Cov plaub hau xim yog qhov programmed.
Puas yogpiebaldism syndrome, tus kab mob no yog dab tsi?
Thaum cov melanocytes uas tsim cov plaub hau pigments ua haujlwm tsis zoo, cov plaub hau grey loj tuaj nrog hnub nyoog. Yog tias tus mob no pib thaum nws tseem hluas, qhov no qhia tau hais tias muaj kab mob caj ces lossis kab mob hnyav.
Kab mob uas pigment metabolism raug kev txom nyem
Vim li cas tus mob "piebaldism" tshwm sim, qhov kev sib txawv no yog dab tsi?
Thaum melanocytes ua haujlwm tsis zoo, cov xwm txheej hauv qab no tsim:
- piebaldism nyob rau hauv kev sib cais;
- albinism;
- piebaldism ua ke nrog kev puas tsuaj rau lub qhov muag, lub cev tsis hnov lus, tawv nqaij, lub paj hlwb, musculoskeletal system.
daim duab kho mob
Yuav ua li cas yog "piebaldism" syndrome tshwm sim nws tus kheej, nws txhais li cas?
Poob cov plaub hau xim nyob rau hauv daim ntawv ntawm ib tug dawb curl ntawm lub taub hau tuaj yeem tshwm sim thaum yug los thiab mus rau neeg laus.
Qhov ua txhaum ntawm cov pigment metabolism sai dua, qhov ua rau nws hnyav dua, qhov tshwm sim hnyav dua.
Isolated discoloration ntawm curl yog ua ke nrog thaj tsam ntawm discoloration ntawm lub hauv pliaj. Nws yog nrog los ntawm cov tsos ntawm foci ntawm hyperpigmentation, piv txwv li, nested darkening ntawm daim tawv nqaij cheeb tsam ntawm lub anterior nto ntawm lub plab mog, ncej puab, ceg, hauv siab, caj npab, li ntawm 1 hli mus rau 6 cm.
Kab mob qab piebaldism
Muaj ntau pab pawg kab mob thiab kev loj hlob tsis zoo uas ua ke, nrog rau cov plaub hau bleaching, kev puas tsuaj loj rau lub cev thiab lub cev. Thaum ntxov nrhiav tau ntawm pathologyyuav cawm tau tus menyuam txoj sia thiab cawm cov niam txiv ntawm ntau yam teeb meem.
YWaardenburg-Klein Syndrome
Tus kab mob no muaj autosomal yam tseem ceeb ntawm cov qub txeeg qub teg, uas yog, nws tshwm sim sib npaug feem ntau hauv cov tub thiab ntxhais. Cov kab mob caj ces tuaj yeem tshwm sim los ntawm niam txiv.
Nrog rau cov tshuaj dawb ntawm cov plaub hau, kev pom dav dav thiab qhov muag pom ntawm tus kab mob tau pom.
Cov tsos mob ntawm tus kab mob no:
- kev tsim cov plaub muag;
- plaub hau grey ntawm puab brows;
- nqaim palpebral fissure;
- qhov muag sib txawv;
- farsightedness;
- wide-set ob lub qhov muag.
Kev tshwm sim dav dav tuaj yeem muaj qhov sib txawv:
- ib nrab albinism;
- dav choj ntawm qhov ntswg;
- qis nce;
- hniav kev loj hlob anomalies;
- Deaf-mutism lossis cais tsis hnov lus;
- tsis txaus ntseeg hauv kev loj hlob ntawm cov kabmob sab hauv;
- hloov qhov loj ntawm pob txha taub hau.
Muab hais tias thaum xub thawj qhov mob hnyav yog tsawg thiab pom nws tus kheej tsuas yog hauv piebaldism, nws yog ib qho tsim nyog yuav tsum tau kuaj xyuas kom txiav txim siab txog qhov mob hnyav. Qhov ntawd yog qhov piebaldism yog.
YWolfe Syndrome
Isolated heterochromia, piv txwv li, xim txawv qhov muag pom feem ntau hauv cov tsiaj. Hauv tib neeg, qhov zaus ntawm tag nrho cov pejxeem yog 1%.
Cov neeg nto moo nrog lub qhov muag sib txawv: Mila Kunis ("Oz the Great thiab Powerful","Cov Ntshav Ties", "Jupiter Ascending"), Askiv actress Jane Seymour, paub rau zaj duab xis "Live and Let Die", David Bowie - British rock singer, songwriter, producer, sound engineer, artist, actor.
Ib leeg heterochrony yog ib yam kab mob, thiab ua ke nrog piebaldism hu ua Wolfe's syndrome thiab ua rau muaj kev lag ntseg sai heev.
Nws yog ib qho tsim nyog yuav tsum paub qhov txawv ntawm tus kab mob no nrog retinitis pigmentosa - dystrophy ntawm pigment epithelium ntawm lub qhov muag. Muaj ntau qhov sib txawv ntawm cov kab mob no - retinitis pigmentosa yam tsis muaj xim.
Niam thiab tus ntxhais mob piebaldism syndrome
Tus kab mob no muaj kev cuam tshuam qub txeeg qub teg txuas rau poj niam chromosome. Ib tug poj niam kis tus kab mob no rau nws tus tub, thiab nws tsim muaj kab mob. Cov ntxhais ntawm cov txiv neej no noj qab nyob zoo yog lawv niam noj qab nyob zoo. Qhov tsuas tshwm sim yuav yog piebaldism.
Yog leej niam kho mob, tab sis yog tus kab mob no, tus ntxhais yuav mob.
Ophthalmoscopy yog siv los kuaj tus kab mob no, uas qhia cov xim xim ntawm cov pob nyiaj uas zoo li npauj pitting.
YIto Hypomelanosis
Tus kab mob no tshwm sim thaum yug los. Cov menyuam yaus ntawm ob leeg pojniam raug kev txom nyem ntau zaus. Nws txoj kev sib kis los ntawm cov niam txiv mus rau cov xeeb ntxwv tsis tau muaj pov thawj, tab sis tus kab mob no ib txwm ua ke nrog kev tsis haum xeeb hauv kev loj hlob ntawm cov kab mob hauv nruab nrog cev.
Kev kuaj mob raws li cov tsos mob hauv qab no:
- thaj chaw tsis muaj xim tshwm rau ntawm daim tawv nqaijbizarre zoo nyob rau hauv daim ntawv ntawm curls, snowflakes;
- ntawm lub palmar, plantar nto thiab mucous daim nyias nyias yuav tsis tshwm sim;
- nyob rau thaj tsam ntawm lub cev, ib ntu ntawm cov plaub hau bleached - piebaldism;
- nrog hnub nyoog thaj tsam ntawm depigmentation ua tsis tshua pom;
- kev puas tsuaj rau lub paj hlwb ib txwm muaj, tshwm sim los ntawm kev puas hlwb, convulsive syndrome, txo cov leeg nqaij;
- qhov muag pathology yog tshwm sim los ntawm strabismus ntawm txawv qhov hnyav;
- nrog rau scoliosis, deformity ntawm lub hauv siab, ceg ceg hauv 25% ntawm cov neeg mob;
- nrog ntau zaus ntawm 10% yog ua ke nrog lub plawv tsis xws luag.
Differentiate tus kab mob no los ntawm ib tug mob hu ua pigment incontinence. Lawv muaj cov tsos mob zoo sib xws, tab sis tom kawg yog qhov qub.
Pigment incontinence
Puas yog qhov tsis tshua muaj piebaldism syndrome kis?
Tus kab mob no kis ntawm niam mus rau tus ntxhais. Nyob ntawm qhov hnyav ntawm daim duab kho mob, nws tshwm sim nws tus kheej nrog cov tsos mob hauv qab no:
- Eruptions ntawm daim tawv nqaij nyob rau hauv daim ntawv ntawm cov kab txaij ntev, uas, tom qab ziab thiab tshem tawm cov crusts, tawm thaj tsam ntawm pigmentation. Cov pob liab liab muaj cov chav kawm undulating nrog lub sijhawm pom ntawm cov tawv nqaij tshiab. Raws li tus menyuam loj hlob tuaj, cov chaw no poob xim thiab ua daj ntseg.
- Kev ua txhaum txoj kev loj hlob thiab teeb tsa ntawm cov hniav, rau tes, plaub hau nyob rau hauv daim ntawv ntawm nested depigmentation thiab baldness.
- Cov kab mob hauv lub paj hlwb yog tshwm sim los ntawm kev ncua ntawm kev puas siab puas ntsws kev hais lus,nce intracranial siab, convulsions, tsis muaj zog ntawm caj npab thiab ob txhais ceg.
- Cov kab mob ntawm qhov muag tsis sib xws thiab tshwm sim raws li strabismus, nystagmus, cataracts, tsis pom kev, dig muag.
YGriscelli Syndrome
Qhov no yog ib pab pawg ntawm cov kab mob uas tuaj yeem tshwm sim hauv peb hom, qhov zoo sib xws ntawm qhov tseem ceeb yog qhov muaj qhov tsis zoo ntawm cov plaub hau ntawm lub taub hau. Muaj cov kev tshwm sim hauv qab no:
- Neurological ntshawv siab nrog hypopigmentation.
- Hom kab mob txaus ntshai tshaj plaws, uas "piebaldism" syndrome tau ua ke nrog kev tsis zoo hematopoiesis. Clinical manifestations: mob siab rau lub cev kub, tsis haum rau kev piav qhia thiab kev kho mob. Qhov mob ua npaws maj mam nce, nce hauv siab, spleen, txo qis hauv erythrocytes, leukocytes, platelets, fibrinogen hauv cov ntshav koom nrog. Lub paj hlwb yog qhov kawg uas tau koom nrog hauv cov txheej txheem.
- Hypopigmentation ntawm daim tawv nqaij thiab plaub hau ntawm qhov sib txawv ntawm qhov hnyav, uas rau lub sijhawm ua haujlwm yam tsis muaj kev puas tsuaj rau cov qe ntshav thiab lub paj hlwb. Rau kev kuaj mob raws sij hawm ntawm qhov txaus ntshai pathology, nws yog qhov yuav tsum tau sab laj nrog kws kho mob hematologist, kws kho mob dermatologist, noob caj noob ces. Lub xub ntiag ntawm ntau yam pigment metabolism tsis meej hauv tsev neeg yog qhov yuav tsum tau coj mus rau hauv tus account, kev tshuaj xyuas yog nqa tawm kom tsis suav cov noob hloov pauv.
Qhov cuam tshuam thiab txaus ntshai ntawm tus kab mob no tau piav qhia los ntawm qhov ntau zaus ntawm nws kev sib xyaw nrog Down syndrome, Edwards, Shereshevsky-Turner.
Nws tuaj yeem tshawb pom cov tawv nqaij thiab plaub hau depigmentation thaum yug los, tab sis tsim kom muaj Shereshevsky's syndrome-Turner tsuas yog ua tau raws li ib tug neeg loj hlob tuaj, thaum luv luv stature, lymphostasis, lub plawv tsis xws luag, nce ntshav siab, underdevelopment ntawm cov qog mammary, tsis muaj txiv mis, hloov ntawm qhov chaw mos genitals nrog connective ntaub so ntswg. Kev txawj ntse ntawm cov neeg mob no xyaum tsis raug kev txom nyem, keeb kwm ntawm lub siab yog yuav luag ib txwm nce siab, muaj ib co zoo euphoria, uas piav qhia txog kev sib raug zoo adaptation ntawm cov neeg mob.
Zoo kawg
Nyob rau hauv tib neeg, cov noob rau cov tawv nqaij ib txwm pigmentation yog ib txwm muaj feem cuam tshuam nrog cov gene lub luag haujlwm rau kev ua txhaum ntawm pigment metabolism.
Lub ntsiab tseem ceeb ntawm cov teeb meem pigmentation yog tias lawv yog cov cim ntawm cov kab mob chromosomal txaus ntshai, ntau yam kab mob hauv lub cev tsis zoo.
Nyob rau hauv rooj plaub uas muaj kev ua txhaum ntawm cov metabolism hauv cov xim ntawm daim tawv nqaij, mucous daim nyias nyias, plaub hau, ib tug tshwj xeeb kev sab laj yog tsim nyog. Peb tshuaj xyuas "piebaldism" syndrome. Nws yog dab tsi, nws tau pom meej.
