Yu de gɛt strenj spat dɛn na yu skin? Yu tink se na bikɔs ɔf (Incontinentia Pigmenti)?

Yu dɔn ɛva yɛri bɔt dis kɔndishɔn we dɛn kɔl `(Incontinentia Pigmenti)` ɔ `(IP)`? Sɔntɛm we yu yɛri dis nem, i go tan lɛk se i kɔmplikt ɛn strenj smɔl. Bɔt dis na impɔtant tɔpik we wi nid fɔ tɔk bɔt, bikɔs na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt sɔm pikin dɛn, mɔ di gyal pikin dɛn. So tide wi go tɔk bɔt bɔku tin dɛn insay simpul wɔd dɛn, lɛk wetin na `(Incontinentia Pigmenti)`, wetin na in simptom dɛm, ɛn aw dɛn kin trit am.

Wetin na `(Inkontinɛns Pigmɛnt)`? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, Incontinentia Pigmenti na wan X-linked dominant jenɛtik disɔda. Yu kin de tink se, "O, dɔktɔ, a nɔ ɔndastand dis." Okay, mek wi mek am simpul mɔ. Na wan kכndyushכn we de pas dכn tru di jin dεm, we min se i de pas dכn frכm mama εn papa to pikin. I de pan wan grup fɔ sik dɛn we dɛn kɔl nyurokyutan dizayd. Dis min se dɛn kayn sik ya kin afɛkt wi sɛntral nervɔs sistɛm (dat na di bren ɛn spɛshal kɔd), skin, yay, tit, ɛn skel sistɛm .

insay di kes fכ `(IP)`, sכm chenj dεm (mכtayshכn) dεm na wi jin dεm de mek sכm sכm spat dεm εn pat dεm na di skin. Dis na di men ɛn kɔmɔn sayn fɔ dis sik. yu kin si dis spat dεm na di skin we dεn bכn am, εn sכmtεm dεn kin apin ivin fכ wik afta dεn bכn am.

Fo kayn spat de na di skin!

Dɛn skin spat ya kin apin wan bay wan, insay 4 stej dɛm. Sɔntɛnde, dɛn stej ya kin kam insay ɔda, ɔ wan stej kin apia jɔs afta di ɔda wan. Tink bɔt am lɛk se di sizin dɛn de chenj, bɔt sɔntɛnde wan sizin kin dɔn bifo di nɛks wan bigin.

1. Vεsikul stej: Dis na we sכm sכm bכdi dεm we rεd, we fulכp wit wata de kכmכt na di skin. Dɛn kin tan lɛk di blista dɛn we kin apin we pɔsin gɛt chukchuk. Dɛn kin apia lɛk strek ɔlsay na di bɔdi, mɔ na di an ɛn fut dɛn.

2. Verrucal stej: As tεm de go , spat dεm we lεk wכt, rayz, rayz de bigin fכ apia usay di blista dεm bin de. Sɔntɛnde, dɛn tin ya kin las fɔ sɔm mɔnt.

3. Hyperpigmentation stej: Nεks, grey, blu-brawn spat dεm de sho na di skin. Dɛn tin ya kin apin ɔltɛm na di bɔdi ɛn di an ɛn fut dɛn, ɛn dɛn kin tan lɛk mabul patɛn ɔ wev layn dɛn . Dɛn spat ya na wan pan di rizin dɛn we mek dɛn mek di nem `(Incontinentia Pigmenti)`. "Pigmenti" min pigmɛnt. Dis stej kin las fɔ lɔng lɔng tɛm.

4. Hypopigmentation stej: As tɛm de go, di dak spat dɛn go tek ples fɔ pale, sɔm tɛm dɛn kin tan lɛk ska . Bɔku tɛm, dɛn tin ya kin las fɔ ɔl yu layf.

Di impɔtant tin na dat nɔto ɔlman go gɛt ɔl dɛn 4 tɛm ya insay dis ɔda. Sɔm pipul dɛn kin jɔs si wan mɔnt klia wan, ɛn ɔda wan dɛn kin si sɔm tɛm wan tɛm.

כl di tεm dεm, IP de kכz bay wan mכtεshכn insay wan jin we dεn kכl NEMO (NF-kappaB essential modulator). dis NEMO jin na imכtant jin we de εp fכ kכntrכl di sεl dεm fכ wok na wi bכdi εn i de εp bak fכ program di sεl dεm we de day. Na ɔnfɔni, no patikyula mɛrɛsin nɔ de fɔ IP yet.

Wetin na di poshubul komplikashכn dεm fכ `(Incontinentia Pigmenti)`?

IP nɔto jɔs wan sik we de mek pɔsin in skin. Sɔntɛnde, i kin kam wit ɔda wɛlbɔdi prɔblɛm dɛn bak. I rili impɔtant fɔ mek wi no bɔt dat bak.

Prɔblɛm dɛn we gɛt fɔ du wit nyurolɔjik

• Sεribral atrofi.
• Smɔl ol dɛn na di wayt tin we de na di sɛntrɔm pan di bren.
• distrokshכn fכ di nεv sεl dεm na di sεribεl kכtεks.

fכ dεn rizin ya, lεk 20% pan di pikin dεm we gεt `(IP)` kin gεt dεn kכndyushכn dεm ya:

• dilayed mכtalman skil dεm (e.g., dilay krawl, dilay waka).
• Intɛlektual disabiliti (lɛk disabiliti fɔ lan).
• Di mɔsul dɛn we wik.
• Fɔ gɛt fit (seizures).

Prɔblɛm dɛn we pɔsin kin gɛt we i de si

Sɔm pikin dɛm we gɛt `(IP)` kin gɛt prɔblɛm wit dɛn yay bak. Fɔ ɛgzampul:

• Krɔs yay (strabismus).
• Katarakt we pɔsin kin gɛt.
• Sɔntɛnde, i kin mek i nɔ ebul fɔ si igen .

Prɔblɛm dɛn we gɛt fɔ du wit dɛn tit

Dɛn kin si dɛnt prɔblɛm bak wit `(IP)`.

• Sɔm tit dɛn nɔ de.
• Di tit dɛn na ``peg-shaped``.
• Dilay we yu de mek yu tit.

Dis na di rizin we mek i rili impɔtant fɔ aks fɔ advays frɔm dɛntist.

Wetin na `(Inkontinɛntia Pigmɛnt Achromians)`?

כda kכndishכn we sכm kayn we lεk dis na `(incontinentia pigmenti achromians)`. insay dis, di skin de divεl כp layt kכla, pale (hypopigmented) wrinkles εn streak dεm . difrεnt lεk di dak spat dεm na `(IP)`, dis kכndishכn nכmכ gεt layt kכla spat dεm. כltu, lεk `(IP)`, dis kכndyushכn `(incontinentia pigmenti achromians)` kin כlso kכl prכblεm na di nεv sεstem.

Aw dɛn kin trit `(Incontinentia Pigmenti)`?

As wi bin dɔn tɔk bifo tɛm, no patikyula mɛrɛsin nɔ de fɔ `(IP)` yet. Bɔt difrɛn tritmɛnt dɛn de fɔ kɔntrol di sik ɛn prɔblɛm dɛn we dis sik kin kam wit. Dɛn kin no di tritmɛnt bay di sayn dɛm fɔ ɛni wan pan dɛn.

• Spɔt dɛn na di skin: Bɔku tɛm, dɛn skin spat ya, mɔ di blista ɛn rɔf rɔf spat dɛn we kin apin we dɛn bigin, kin dɔn smɔl smɔl we dɛn nɔ gɛt ɛni tritmɛnt, ilɛksɛf na di yɔŋ pɔsin ɔ we i big.Dɛn dak dak spat (hyperpigmentation) ɛn layt spat (hypopigmentation) kin las fɔ lɔng tɛm, sɔm tɛm dɛn kin las fɔ ɔl dɛn layf. Bɔt bɔku tɛm dɛn nɔ kin mek pɔsin fil pen.
• Di sayn dɛm fɔ yu nervɔs sistɛm: If yu gɛt sik we de mek yu sik, yu mɔsul dɛn wik, ɔ yu mɔsul dɛn nɔ de swɛla, wan dɔktɔ we de mɛn yu nyuro kin gi yu mɛrɛsin ɛn sɔm mɛrɛsin dɛn .
• Prɔblɛm fɔ si: If yu nɔ de si fayn, yu dɔktɔ kin tɛl yu fɔ tek glas, tek mɛrɛsin, ɔ if i bad, yu fɔ du ɔpreshɔn .
• Dɛn tit prɔblɛm: Dɛn kin trit dɛn tit prɔblɛm. Dɛn kin du tin dɛn lɛk fɔ ful-ɔp ɛn fɔ mek dɛn tit.

Aw layf go tan lɛk wit di kɔndishɔn `(Incontinentia Pigmenti)`? (Prɔgnosis) .

Dis na prɔblɛm fɔ bɔku pipul dɛn. Nɔto ɔlman we gɛt IP kin gɛt siriɔs prɔblɛm. Bɔku pipul dɛn, mɔ di wan dɛn we nɔ kin gɛt siriɔs prɔblɛm dɛn we dɛn smɔl ɔ we dɛn smɔl, kin liv nɔmal ɛn wɛlbɔdi layf. di pigment spat dεm we de sho na di skin kin fεd as tεm de go, εn sכmtεm dεn kin dכn kכmplit wan.

Bɔt sɔm pipul dɛn kin kɔntinyu fɔ gɛt prɔblɛm wit dɛn nyurolɔjik ɛn bɔdi. So, if yu ɔ yu pikin gɛt IP, i bɛtɛ fɔ tɔk to yu dɔktɔ ɔ yu jenɛtik kɔlnɔ fɔ no di bɛst wɛlbɔdi plan fɔ yu.

Naw, risechar dεm de du jεnεtik linkej stכdi fכ no usay di jin dεm we de asai fכ nyurokyutan dizכrd lεk IP de. Dɛn de stɔdi bak aw dɛn jɛnɛtik muteshon ya kin afɛkt di divɛlɔpmɛnt ɛn wok we di bren ɛn di nervɔs sistɛm de du. Risach lɛk dis go ɛp wi fɔ ɔndastand mɔ bɔt sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks ɛn i go mek wi ebul fɔ gɛt tritmɛnt dɛn tumara bambay.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

• Incontinentia Pigmenti na wan sik we nɔ kin apin so ɔltɛm, we kin afɛkt di skin mɔ, bɔt i kin afɛkt di nervɔs sistɛm, di yay, ɛn di tit bak.
• Spɔt dɛn na di skin kin apia insay 4 stej dɛn. Bɔku tɛm, dɛn tin ya kin dɔn as tɛm de go.
• Nɔto ɔlman kin gɛt siriɔs prɔblɛm dɛn. Bɔku pipul dɛn kin liv nɔmal layf.
• Na di sayn dɛm wae de sho aw fɔ trit yu. Yu kin aks fɔ ɛp frɔm spɛshal pipul dɛn we sabi bɔt nyurolɔji, ɔftalmɔlɔji, ɛn dɛntist.
• If yu ɔ yu pikin gɛt ɛnitin fɔ wɔri bɔt dis sik, go to dɔktɔ wantɛm wantɛm. Di tin we impɔtant pas ɔl na fɔ nɔ panik, gɛt di rayt infɔmeshɔn, ɛn go fɛn di tritmɛnt we yu nid.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni kwɛstyɔn, nɔ shem ɛn aks dɔktɔ. Wi ɔl de ya fɔ ɛp yu.

` Incontinentia Pigmenti, IP, skin sik, jenɛtik sik, NEMO jin, skin spat, nyurolɔjik sik, pikin sik