Wetin yu nid fɔ no bɔt Rothmund-Thomson Syndrome (RTS)!

Yu de wɔri bɔt yu smɔl pikin in skin ɔ in ia we go lɔs? Sɔmtɛm, dɛn sayn ya kin kam bikɔs ɔf wan sik wae nɔr kin bɔrku. Wan pan dɛn kayn sik ya na Rothmund-Thomson Syndrome , ɔ (RTS) fɔ shɔt tɛm. Di nem kin tan lɛk se i kɔmplikt smɔl, bɔt lɛ wi kip am simpul ɛn izi fɔ ɔndastand.

Wetin na di sik we dɛn kɔl Rothmund-Thompson Syndrome (RTS)?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Rothmund-Thompson syndrome na wan sik we dɛn kin bɔn sɔm pikin dɛn wit. Na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Dat min se na we wan pan di smɔl smɔl jin dɛn we de na wi bɔdi chenj. Dis sik kin afɛkt sɔm pat dɛn na di pikin in bɔdi. I kin afɛkt mɔ di skin, di ia, di tit, di bon dɛn, di yay, ɛn di we aw pɔsin kin bɔn pikin. Sɔntɛnde, dɛn pikin ya kin chenj di sayz ɛn shep fɔ tin dɛn lɛk dɛn an, fut, ɛn an.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Rothmund-Thompson syndrome na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa . Dis min se if dɛn mama ɛn papa ɔl tu gɛt chenj na wan patikyula jin, i go mɔs bi se dɛn pikin gɛt dis sik.

Bɔt nɔ wɔri, dis na tin we nɔ kin apin so ɔltɛm . Na lɛk 300 pipul dɛn nɔmɔ dɛn dɔn ripɔt ɔlsay na di wɔl. So nɔto sɔntin we kin apin to ɔlman.

Yu tink se ɔda nem de fɔ dis? yes, sכmtεm dεn kin kכl am bak `(poikiloderma congenitale)`.

Aw di sik we dɛn kɔl Rothmund-Thompson syndrome go afɛkt mi pikin?

Dis kכndyushכn (RTS) kin mek sכm chenj dεm na di we aw pikin de gro εn divεlכp. Lɛ wi tek wan luk pan wetin kin apin mɔ:

• Skin rash: Rɛd rash kin kɔmɔt, mɔ na di chɛst.
• I kin lɔs ɔ i kin tan: I kin lɔs di ia na di ed, ɛn i kin lɔs di aylays ɛn aybrɔw.
• Ay chenj: Sɔm prɔblɛm dɛn kin apin na di yay.
• Di tit we de te: Tit kin apin leta pas ɔda pikin dɛn.
• Di tin dɛn we yu de si na yu fes: Yu kin si tin dɛn lɛk smɔl nos ɛn di jaw we de dɔŋ we de kɔmɔt na do.

Aw Rothmund-Thompson Syndrome De Afɛkt di Bɔdi Sistɛm dɛn

Dis jenɛtik kɔndishɔn kin afɛkt pipul dɛn difrɛn difrɛn we dɛn. Dis min se nɔto ɔlman go gɛt di sem sayn. Lɛ wi tek wan luk pan aw i kin afɛkt difrɛn bɔdi sistɛm dɛn.

Kanda

di pikin dεm we gεt dis kכndyushכn kin gεt rεshכn na dεn fes bitwin 3 εn 6 mכnt. Dis rash kin leta go na di an, leg, ɛn bɔdi. dis rash dεn kכl am bak ``poikiloderma.'' Na wan kכmbaynshכn fכ simptom dεm lεk di skin we de kכla, di blכd vεsεl dεm we yu de si, εn di skin we de tכn.

di mכst imכtant, dεn pikin ya de pan inkrεs risk fכ gεt skin kεnsar (`Basal cell carcinoma` εn `Squamous cell carcinoma`). So, fɔ protɛkt yusɛf frɔm di san ɛn fɔ chɛk yu skin ɔltɛm rili impɔtant.

Ia

Dɛn pikin ya kin gɛt bɔku bɔku ia na dɛn ed. Dɛn kin gɛt bak smɔl aylash ɔ aybrɔw dɛn we nɔ bɔku ɔ nɔ gɛt bɛtɛ.

Tit

Pikin dɛn we gɛt Rothmund-Thompson syndrome kin lɔs dɛn tit, dɛn tit nɔ kin fayn, ɔ dɛn kin gɛt tit we kin kam insay rili let. Dɛn kin gɛt ay risk bak fɔ gɛt dɛnt kaviti. So, i fayn fɔ mek dɛntist de chɛk yu tit ɔltɛm.

Yay

Pikin dεm we gεt dis jεnεtik kכndyushכ n kin gεt bכku risk fכ gεt katarakt, bכku tεm bitwin 3 εn 7 ia . Dis kin mek i nɔ ebul fɔ si fayn igen.

Bɔn dɛn

Sɔm chenj dɛn kin de bak na di bon dɛn. Di bon dɛn kin smɔl pas aw i kin bi, dɛn kin jɔyn togɛda, ɔ sɔm bon dɛn nɔ kin de. Dɔn bak, di bon dɛn kin tan ɛn dɛn kin brok izi wan (fractures).

Dijestiv sistɛm (Gastrointestinal) .

Bebi dɛn we gɛt RTS kin gɛt prɔblɛm fɔ it. Vɔmit ɛn dayarɛa bak kin apin.

Blɔd sistɛm (Hematologic) .

Bɔku tɛm dɛn pikin ya kin gɛt tin dɛn lɛk we dɛn nɔ gɛt bɛtɛ blɔd ɛn we dɛn nɔ kin gɛt bɛtɛ wayt blɔd sɛl. Wait blɔd sɛl na wan kayn sɛl na wi bɔdi we de fɛt sik.

Gro

dis pikin dεm kin bכn wit lכw wet we dεn bכn εn sכt ayt. Bɔrku pipul dɛm wae gɛt Rothmund-Thompson syndrome kin de shɔt pas de avrej pɔrsin ɔl dɛn layf.

Fɔ bɔn pikin

pan uman dεm, abnכmal mεnstrashכn kin apin.

Wetin na di prɔblɛm dɛn we kin kam wit di sik we dɛn kɔl Rothmund-Thompson syndrome?

Dis na sɔntin we wi fɔ wɔri bɔt pas ɔl. Pikin dɛn we gɛt (RTS) kin gɛt mɔ risk fɔ gɛt sɔm kayn kansa. Di men wan dɛn na:

• Bɔn kansa (`Ɔstiɔsarkoma`) .
• Limfatik lukimiya, we na wan kayn blɔd kansa
• Limfoma (kansa na di limfatik sistɛm) .
• Skin kansa (`Basal sel kansa` ɛn `Squamous cell carcinoma`)

So, i rili impɔtant fɔ mek dɛn pikin dɛn ya de du dɔktɔ chɛk ɔltɛm ɛn fɔ de wach bɔt kansa.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Rothmund-Thompson?

Rothmund-Thompson sεndrכm de kכz bay wan mכtεshכn na di jin dεm `ANAPC1` כ `RECQL4`.Sɔm pipul dɛm wae gɛt RTS kin gɛt dis muteshon frɔm dɛn mama ɛn papa. Fɔ ɛgzampul, if yu ɛn yu patna ɔl tu gɛt dis jin muteshon, yu pikin gɛt 1 pan 4 chans fɔ gɛt RTS.

Bɔt nɔto ɔlman we gɛt RTS gɛt dis patikyula jin muteshɔn. di risach pipul dεm stil de invεstigat wetin mek sכm pipul dεn de divεlכp RTS we nכ gεt mכtεshכn na di `ANAPC1` כ `RECQL4` jin dεm.

Wetin na di sayn dɛm wae de sho se yu gɛt Rothmund-Thompson syndrome?

Di sayn dɛm fɔ Rothmund-Thompson syndrome kin apun insay di fɔs ia wae pɔrsin de liv. Bɔt, di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm sayn wae kin kam pan pɔrsin wae gɛt dis sik na:

• Katarakt we pɔsin kin gɛt
• di chenj dεm na di fes fכm (e.g., sכm nos, di lכw jaw we de kכmכt) .
• Prɔblɛm fɔ it, mɔ we yu de vɔmit ɔ dayarɛa afta yu dɔn drink milk ɔ fɔmula
• Di bon dɛm na di an, an, ɔ leg we nɔ fayn
• Tit dɛn we smɔl, we nɔ shep fayn, ɔ we nɔ de
• Di ia we de lɔs ɔ we di ia nɔ de gro bɛtɛ (inklud di aylash ɛn aybrɔw) .
• di pat dεm we at, rכf pan di skin (keratotic lεsin dεm - lεk kכn) .
• Skin rash (poikiloderma) ɛn sɔntɛm blista
• di skin pigmεnt de chenj (spot dεm we di skin de kכla) .

Aw dɔktɔ dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Rothmund-Thompson syndrome?

Yu kin notis dɛn sayn ya na yu pikin yusɛf. Ɔ, yu dɔktɔ kin notis dɛn sayn ya we yu de go to wɛl pikin ɔltɛm. If yu dɔktɔ sɔspɛkt RTS, dɛn go ɔda fɔ du sɔm tɛst fɔ kɔnfirm di diagnosis.

Us tɛst dɛn kin yuz fɔ no di sik (RTS)?

Di dɔktɔ kin tɛl yu fɔ du tɛst dɛn lɛk:

• Skin biopsy: If yu pikin gɛt skin rash we dɛn kɔl poikiloderma, di dɔktɔ kin tek smɔl sampul pan di skin ɛn sɛn am fɔ tɛst am. Spɛshal dɔktɔ dɛn (pathologists) go chɛk dis sampul ɔnda maykroskɔp fɔ si if ɛni chenj de na di skin sɛl dɛn.
• Jɛnɛtik tɛst: Dis na blɔd tɛst. i kin no if mכtεshכn de insay di jin dεm `ANAPC1` כ `RECQL4`. Dis kin kɔnfɔm (RTS). Bɔt mɛmba se nɔto ɔl pikin we gɛt (RTS) gɛt dis jɛnɛtik muteshon.

Aw dɛn kin trit di sik we dɛn kɔl Rothmund-Thompson syndrome?

Bɔt i sɔri fɔ no se dɔktɔ dɛn nɔ kin ebul fɔ mɛn di sik we dɛn kɔl Rothmund-Thompson syndrome ɔltogɛda. Bɔt dɛn kin trit di sayn dɛm. Di tritmɛnt fɔ (RTS) de dipen pan di sayn dɛm we yu pikin gɛt. Yu dɔktɔ go tɔk to yu bɔt tritmɛnt dɛn we go ɛp fɔ mek yu pikin gɛt wɛlbɔdi.

I go dipen pan di patikyula sayn dɛn we yu pikin gɛt ɛn in ej, dɔktɔ dɛn kin tɛl yu fɔ du tritmɛnt dɛn lɛk:

• Katarakt ɔpreshɔn fɔ mek yu ebul fɔ si fayn fayn wan.
• If bon dεm de we nכ nכmal, dεn kin trit dεm wit spεshal bon כpεrayshכn (`Orthopedic surgeries`) .
• Protekshɔn frɔm strɔng san layt(yuz sanskrin, wɛr hat) ɛn chɛk yu skin ɔltɛm .
• Fɔ chɛk yu tit ɔltɛm ɛn fɔ gi yu tit tritmɛnt fɔ mek yu gɛt bak if nid de.
• Fɔ wach pɔsin we gɛt kansa: Dis min se yu fɔ de chɛk ɔltɛm fɔ si if yu gɛt sayn dɛn we de sho se yu gɛt kansa.

Yu tink se jenɛtik tritmɛnt de fɔ dis?

Naw, no aprɔv jin tritmɛnt nɔ de fɔ Rothmund-Thompson syndrome, bɔt risach pipul dɛn de kɔntinyu fɔ invɛstigat di jɛnɛtik muteshon we gɛt fɔ du wit RTS.

A kin mek mi pikin nɔ divɛlɔp (RTS)?

Bɔt i sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Rothmund-Thompson syndrome. Na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Sɔm pipul dɛn kin gɛt am bikɔs ɔf dɛn famili istri. Sɔntɛnde, i kin apin bak fɔ rizin dɛn we wi nɔ ɛksplen.

Aw a go no if mi pikin de pan denja fɔ gɛt (RTS)?

If pɔsin na yu famili (ɔ yu patna in famili) gɛt Rothmund-Thompson syndrome, i rili impɔtant fɔ gɛt kɔyl fɔ yu jɛnɛtiks. Dis go ɛp yu fɔ no mɔ bɔt yu risk fɔ gɛt pikin we gɛt RTS. Yu ɛn yu patna kin du blɔd tɛst fɔ si if yu gɛt dis jin muteshon.

Imajin se una ɔl tu gɛt dis jin we de chenj. Dis nɔ min se yu pikin go mɔs gɛt RTS. Yu pikin kin gɛt RTS (we min se i kin pas di jin to in pikin dɛn we i nɔ gɛt ɛni sayn), bɔt i pɔsibul bak se i nɔ go gɛt di sik.

Wetin a fɔ ɛkspɛkt if mi pikin gɛt (RTS)?

Dɔktɔ dɛn go tek tɛm wach yu pikin (`surveillance`). Bikɔs pikin dɛn we gɛt (RTS) kin gɛt mɔ risk fɔ gɛt sɔm kansa dɛn, di dɔktɔ go de chɛk ɔltɛm fɔ si if dɛn gɛt sayn dɛn fɔ dɛn kansa ya.

Yu pikin kin nid ɛp frɔm spɛshal pipul dɛm fɔ mɛn sɔm pan dɛn RTS simptom dɛm. Apat frɔm di dɔktɔ we dɛn kin mɛn pikin dɛn ɔltɛm, dɛn kin go to dɔktɔ we de mɛn dɛn yay, dɔktɔ we de mɛn dɛn bɔdi, dɔktɔ we de mɛn dɛnt, dɔktɔ we de mɛn dɛn bɔdi, we de mɛn dɛn jɛnɛtiks, ɛn dɔktɔ we de mɛn blɔd/ɔnkɔlɔjis .

Wetin na di layf we mi pikin we gɛt Rothmund-Thompson syndrome de liv?

Bɔrku pikin dɛm wae gɛt Rothmund-Thompson syndrome gɛt gud fiuja. Dɛn sɛns bak na nɔmal tin. Pipul wae gɛt (RTS) wae nɔr gɛt kansa de liv nɔrmal layf span.

Aw a go kia fɔ mi pikin we gɛt Rothmund-Thompson syndrome?

Ɔltɛm tɔk to yu dɔktɔ bɔt di sik dɛn we yu pikin gɛt. Di dɔktɔ kin tɛl yu fɔ aks fɔ ɛp frɔm spɛshal pipul dɛn.

Tɛl yu dɔktɔ wantɛm wantɛm if yu notis ɛni nyu spat ɔ lumps na yu pikin in skin, mɔ if i chenj in kɔlɔ ɔ tɛkstɔr. Dɔn bak, tɛl yu dɔktɔ if yu notis ɛni swel ɔ lumps na yu pikin in an ɔ leg, ɔ if yu pikin de kɔmplen se i de fil pen.

Mɛsej we dɛn kin kɛr go na os

Rothmund-Thompson syndrome na wan jεnεtik kכndyushכn we dεn kin bכn sכm pikin dεm wit. I kin mek yu skin rɔsh, yu ia, yu bon, ɛn yu tut kin chenj. I kin mek bak di risk fɔ gɛt kansa. (RTS) nɔr kin ebul fɔ mɛn, bɔt dɛn kin trit di sayn dɛm. Tɔk to yu dɔktɔ bɔt aw fɔ ɛp yu pikin fɔ liv fayn layf. Nɔr wɔri, yu kin ebul fɔ mɛn dis sik wit di rayt mɛrɛsin ɛn kia.

` Rothmund-Thomson Syndrome, RTS, poikiloderma, jenɛtik dizayd, skin rash, ia we de lɔs, kansa risk