Yu gɛt strenj spat ɔ lumps na yu bɔdi? Lɛ wi tɔk bɔt Nyurofibromatosis (NF)!

Yu gɛt dɛn kɔfi kɔlɔ spat dɛn de na yu skin we sɔntɛm yu dɔn si frɔm we yu smɔl? Ɔ sɔntɛnde yu kin gɛt smɔl smɔl tin dɛn we gɛt smɔl smɔl tin dɛn we kin apia na say dɛn na yu bɔdi? Sɔntɛm dɛn tin ya nɔto jɔs spat ɔ lumps. Tide wi go tɔk bɔt wan kɔndishɔn we kin tan lɛk dat, ɛn i kɔmplikt smɔl bɔt wi kin ɔndastand am. Dat na Nyurofibromatosis , ɔ NF fɔ shɔt tɛm.

Wetin na Nyurofibromatosis (NF)?

Fɔ tɔk am simpul wan, Nyurofibromatosis (NF) na wan grup we kin afɛkt wi nervɔs sistɛm ɛn wi jin dɛn . I kin afɛkt wi bren, wi spɛnal kɔd, wi nerv dɛn, ɛn wi skin. Di sayn dɛm wae yu kin gɛt kin difrɛn frɔm pɔrsin to ɔda pɔrsin, ɛn dɛn kin difrɛn bak fɔ di kayn NF wae yu gɛt. Bɔt di sayn dɛm we kin apin mɔ na di bɔn mak ɛn di tumbu dɛm we nɔ kin gɛt kansa (benign). Yu kin gɛt dis sik bak frɔm yu famili, we na yu jin. Bɔt i sɔprayz fɔ no se insay lɛk 50% pan di kes dɛm, i kin apin randomly, witout ɛni famili histri.

Wetin na di men kayn Nyurofibromatosis (NF)?

Tri men tכp dεm de fכ dεn NF dεm ya. Lɛ wi si wetin dɛn bi.

1. Nyurofibromatosis tayp 1 (NF1) .

Dis na di kayn NF we kכmכn pas כl . I kin apin we:

• Café au lait spots: Dɛn wan ya tan lɛk spat dɛn we gɛt kɔfi kɔlɔ. Dɛn kin apia ɛnisay na di bɔdi.
• Nyurofibromas: Smɔl smɔl tɔŋ dɛn we de fɔm pan di nerv dɛn.
• Frɛkl na di armpit ɛn groin: Dɛn kin tan lɛk smɔl smɔl dɔt dɛn.
• di optik nεv tכmכro dεm: Dis kin divεlכp na di nεv dεm we de kכnekt to di yay.
• Bɔn dɛn we nɔ fayn: Fɔ ɛgzampul, tin dɛn lɛk skɔliosis.

Imajin, wan smɔl titi de we nem Nimali. We dɛn bɔn am, i bin gɛt bɔku say dɛn na in bɔdi we gɛt kɔfi kɔlɔ we tan lɛk milk. As i de ol smɔl, smɔl smɔl spat dɛn bin de apia bak na in an. Na we i sho dɛn to dɔktɔ nɔmɔ i kam fɔ no se i gɛt NF1.

2. NF2-asosiet Schwannomatosis (dεn bin kכl am fכs Nyurofibromatosis tayp 2 (NF2)) .

Dis kayn kin apin:

• Nyuroma dεm we de gro sloslo: dεn ya de fכm bak along di nεv dεm.
• I nɔ de yɛri fayn: I kin apin we pɔsin nɔ de yɛri fayn.
• Vishɔn kin chenj: Tin dɛn lɛk katarakt kin apin.
• Yu nɔ gɛt bɛtɛ trɛnk ɔ yu wik: Yu kin fil lɛk se yu an ɛn fut dɛn dɔn swɛla (peripheral neuropathy).

3. Schwannomatosis (SWN) we de mek pɔsin gɛt sik.

Dis na di kayn we we nɔ bɔku . difrεn sכbtayp dεm de fכ dis, dipכnt pan di jεnεtik mכtεshכn. Sɔntɛnde, nɔr kin gɛt ɛni sayn fɔ de atɔl. Bɔt if di sayn dɛn de sho, na sɔm tin dɛn ya we kin apin:

• Nεv tכmכro dεm we de gro sloslo (Schwannomas):Dɛn tin ya kin apin na wan pat nɔmɔ na di bɔdi.
• Pen we nɔ de dɔn.
• Di finga dɛn kin swɛla ɛn inflamɛns.

Aw kɔmɔn tin na Nyurofibromatosis (NF)?

fכ tכk roughly, NF1 de akכnt fכ bכt 96% pan כl di NF kes dεm. Dat min se na lɛk wan pan ɛvri 3,000 pikin dɛn we dɛn kin bɔn ɛvri ia ɔlsay na di wɔl kin gɛt am. NF2 de mek lεk 3%, dat na lεk wan pan 33,000 pikin dεm we dεn bכn. Schwannomatosis (SWN) nכ kin ivin sכmtεm, i kin apin na lεk 1%.

Wetin na di sayn dɛm fɔ Nyurofibromatosis (NF)?

As wi bin dɔn tɔk, di sayn dɛm kin difrɛn difrɛn wan bay di kayn NF. Sɔm pipul dɛn nɔ kin gɛt ɛni sayn atɔl, ɛn ɔda wan dɛn kin gɛt siriɔs sik. Bɔt tu men tin dɛn de we ɔl di tri kayn tin dɛn kin du:

• Tכmכro: Dis na lumps fכ tisu we de fכm we di sεl dεm kam togεda. difrεn tכp dεm fכ NF tכmכro dεm de mek wit difrεn tכp sεl dεm. Bɔku tɛm dɛn tumbu ya kin gro sloslo ɛn dɛn nɔ kin gɛt kansa (benign) . Bɔt, na smɔl tɛm nɔmɔ, sɔm tumbu dɛn kin bi kansa. Dɛn kɔl dɛn tɔŋ ya we kin mek pan di nerv dɛn Nyurofibromas .

• di skin we de gro: Dis na di mak dεm we dεn bכn, lεk di café au lait spot dεm we wi bin dכn tכk bכt, εn di mol dεm we de divεlכp na di armpit εn groin εria dεm. sכmtεm, sכm sכft, sכft, saiz lכmp dεm (cutaneous neurofibromas) kin divεlכp bak na di skin sεf.

Di tin we impɔtant pas ɔl na fɔ nɔ fred se yu gɛt NF jɔs bikɔs yu gɛt tu-tri spat lɛk dis. Bɔt if yu gɛt ɛni dawt, i go fayn fɔ mek yu go to dɔktɔ.

Apat frɔm dɛn men sayn ya, ɔda sayn dɛn kin sho:

• I nɔ de yɛri ɔ i nɔ de si fayn igen.
• Skɔliosis we de mek pɔsin gɛt sik.
• Di mɔsul dɛn we wik.
• Di an ɛn fut dɛn we nɔ gɛt bɛtɛ trɛnk ɔ we de swɛt.
• Bɔdi de at ɛn ed de at.
• Di chenj wae de kam pan aw pɔrsin de biev, lɛk Atɛnshɔn-Dɛfisit/Haypa Aktiviti Disɔda (ADHD).
• I nɔ izi fɔ lan.
• Kɔndishɔn dɛn lɛk we pɔsin kin gɛt sik.

Aw pɔrsin wae gɛt Nyurofibromatosis (NF) tan lɛk?

Dis kin rili difrɛn frɔm wan pɔsin to ɔda pɔsin. Sɔm pipul dɛn kin si smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl. Dis na nyurofibromas. Sɔm pipul dɛn kin gɛt pas tu pan dɛn lumps ya, ɔ dɛn kin gɛt big lummp (plexiform neurofibroma) we gɛt sɔm nɛv dɛn we de ɔnda di skin.

Wi bin tɔk bɔt café au lait ples dɛn. Dɛn wan ya kin gɛt sayz ɛn shep frɔm flat, layt brawn to dak brawn. Bɔku tɛm yu go si siks ɔ mɔ pan dɛn say dɛn ya.

Na nɔmal tin fɔ gɛt spat na wi fes. bכt insay NF, dεn spat dεm ya de apin na di armpit εn groin εria dεm.Dɛn tin ya na di wan dɛn we bɔku pipul dɛn kin du. Dɛn tan lɛk smɔl smɔl dɔt dɛn we gɛt rɛd brawn.

Na us ej di sayn dɛm fɔ Nyurofibromatosis (NF) kin apia?

Dis kin difrɛn bak frɔm wan pɔsin to ɔda pɔsin. Sɔm sayn dɛn kin de we dɛn bɔn am. Sɔm kin apin we yu de ol, we yu de rich tɛn ia, ɔ we yu dɔn big. fכ egzampl, nyurofibromas kin de na di skin fכ sכm pikin dεm we dεn bכn dεm. Bɔt bɔku tɛm dɛn kin apia we dɛn yɔŋ. Café au lait spot na kɔmɔn tin insay di fɔs sɔm ia dɛn na pikin in layf. Frεkshכn na di groin εn di armpit kin apin bitwin 3 εn 5. Di sayn dεm fכ schwannomatosis kin bigin we dεn big, arawnd 30 ia.

Wetin kin mek pɔsin gɛt Nyurofibromatosis (NF)?

di men rizin fכ dis na di chenj (mכtεshכn) na wi jin dεm . Lɛ wi luk wetin kin mek ɛni kayn:

• Nyurofibromatosis tayp 1 (NF1): Wi gɛt wan jin we dɛn kɔl NF1 na wi bɔdi. dis de kכntro di prodakshכn fכ wan protin we dεn kכl nyurofibromin. di wok we dis protin de du na fכ sכpres di fכmeshכn fכ di tכmכro dεm.
• NF2-associated schwannomatosis/Neurofibromatosis type 2 (NF2): dis na wan jin we dεn kכl NF2 (merlin) . Dis kin kɔntrol bak wan ɔda prɔtin we dɛn kɔl nyurofibromin. dis protin de sכpres di fכmeshכn fכ di tכmכro dεm bak.
• Schwannomatosis: Dis kin bi bay di mכtεshכn dεm na di jin dεm SMARCB1 כ LZTR1 . Bɔt bɔku tɛm, dɛn nɔ kin ebul fɔ no di rayt jin we de mek dis sik.

Fɔ tɔk am simpul wan, if muteshon de na ɛni wan pan dɛn 4 jin ya, di protin dɛn nɔ kin gɛt di instrɔkshɔn dɛn we dɛn nid fɔ kɔntrol di we aw wi sɛl dɛn de gro. na da tεm de tכmכro dεm kin bigin fכ fכm na di bכdi.

yu kin gεt NF1 כ NF2 frכm yu mama εn papa, we dεn kכl כtosom dכminant patεn . Dis min se yu jɔs nid fɔ gɛt kɔpi fɔ di jin we dɛn dɔn chenj frɔm wan pan yu mama ɛn papa fɔ gɛt di sik. Bɔt lɛk af pan di pipul dɛn we gɛt NF1 kin gɛt am fɔ dɛnsɛf, ɛn dɛn nɔ kin gɛt ɛni famili histri. Dis kin apin bak to pipul dɛm wae gɛt NF2. Na lɛk 85% pan di pipul dɛm wae gɛt schwannomatosis kin gɛt dis sik fɔ dɛnsɛf, wae nɔr kin gɛt ɛni famili histri.

Wetin na di risk factor dɛm fɔ Nyurofibromatosis (NF)?

Dis sik kin kam pan ɛnibɔdi, bɔt if pɔrsin na yu famili gɛt wan pan dɛn NF kɔndishɔn ya, yu kin gɛt am bak.

Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt Nyurofibromatosis (NF)?

NF kin mek sɔm kɔmplikɛshɔn dɛn. Sɔm pan dɛn na:

• I nɔ de yɛri fayn igen.
• I nɔ de si bɛtɛ igen.
• Pen we de kɔntinyu fɔ de.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de lan ɛn di we aw i de biev.
• di kכndishכn dεm fכ di kכdivaskyul - fכ egzampl, haypatεnshכn, di at kכndishכn dεm we dεn bכn wit.
• Self-esteem issues bikɔs ɔf di skin kɔndishɔn.
• Di risk fɔ gɛt kansa pas di jenɛral pipul dɛn, inklud bɔdi kansa ɛn sɔft tisu kansa (sarkoma).

Impɔtant: Bɔku pan di NF tɔŋ dɛn nɔto kansa. Bɔt, na smɔl tɛm nɔmɔ, sɔm NF tɔŋ dɛn kin bi kansa. So, i rili impɔtant fɔ mek yu de chɛk yu dɔktɔ ɔltɛm.

Aw dɛn kin no se pɔsin gɛt Nyurofibromatosis (NF)?

Dɔktɔ go chɛk yu ɛn du di tɛst dɛn we yu nid fɔ no if yu gɛt NF. Dɛn go fɔs chɛk yu skin fɔ chɛk fɔ si if yu gɛt sayn dɛn fɔ café au lait spat ɔ nyurofibromas. Dɛn go chɛk bak fɔ si if pɔsin gɛt skɔliosis, blɔd prɛshɔn, fɔ si, ɛn fɔ yɛri. Dɛn go aks bak bɔt yu wɛl bɔdi ɛn yu famili mɛdikal istri. So, if yu no se sɔmbɔdi na yu famili gɛt NF, mek shɔ se yu tɛl yu dɔktɔ.

di krayteria fכ no εvri kayn NF difrεn. Pan ɔl we bɔku tɛm, yu kin du klinik ɛgzam fɔ no if yu gɛt di sik, sɔm tɛst dɛn kin ɛp fɔ no wetin mek yu gɛt di sik. Di tɛst dɛn we dɛn kin du fɔ tek pikchɔ, lɛk MRI, X-ray, ɔ CT skan, kin sho aw di sik dɔn afɛkt yu nervɔs sistɛm. We yu de tɛst yu jɛnɛtiks, dat kin ɛp bak fɔ no di jin we de mek yu gɛt di sik. Bɔt dɔktɔ dɛn nɔ dɔn no yet ɔl di jin dɛn we kin mek pɔsin gɛt dis sik.

Sɔmtɛm, dɛn nɔ kin no di sayn dɛm te sɔm ia afta dɛn dɔn apia. Dɛn kin no se sɔm pipul dɛn dɔn big. Dis na bikɔs di NF simptom dεm de divεlכp ova tεm, insay stej dεm.

Wetin na di tritmɛnt fɔ Nyurofibromatosis (NF)?

Dis rili impɔtant: Yu NF tritmɛnt fɔ de ɔnda di gayd fɔ wan tim we gɛt bɔku bɔku dɔktɔ dɛn we gɛt ɛkspɛriɛns pan NF pasɛnt dɛn . Dis tim kin gɛt:

• Nyuro-ɔnkɔlɔjis dɛn.
• Nyurosɔjɔn dɛn.
• Di dɔktɔ dɛn we de du ɔpreshɔn pan di yes, nos ɛn trot (ENT ɔspitul dɛn).
• Plastik ɔspitul dɔktɔ dɛn.
• Saykotɛrapist dɛn.
• Di wan dɛn we de stɔdi bɔt aw fɔ yɛri.
• Di wan dɛn we de advays pipul dɛn bɔt di jɛnɛtiks.

Pan ɔl we naw nɔ gɛt mɛrɛsin fɔ NF, bɔku tin dɛn dɔn apin we dɛn de no ɛn trit di tɔŋ dɛn we gɛt fɔ du wit NF. Yu dɔktɔ go gayd yu fɔ di bɛst tritmɛnt fɔ yu sik.

If yu nɔr gɛt ɛni sik, ɔr yu sik nɔr de ambɔg yu ɛvride layf, yu nɔr go nid ɛni tritmɛnt. If na so i bi, yu dɔktɔ go aks yu fɔ kam insay fɔ chɛk-ap wan ɔ tu tɛm insay di ia fɔ wach aw di sik de go bifo.

Di dɔktɔ kin tɛl yu fɔ gi yu tritmɛnt dɛn lɛk:

• Fɔ pul di tumbu: .Ɔpreshɔn kin pul di tumbu dɛn na di skin ɛn ɔda say dɛn na di bɔdi.
• Mɛdikeshɔn: Di US Food and Drug Administration (FDA) dɔn gri fɔ di drɔg selumetinib fɔ stɔp di grow we di tumor sɛl dɛn de gro pan pikin dɛn we ol bitwin 2 ɛn 18 ia wit NF1 we ​​gɛt plexiform neurofibroma tumor we dɛn nɔ go ebul fɔ pul bay ɔpreshɔn, ɔ we dɛn tumor dɔn mek dɛn gɛt disabled ɔ disfigurement.
• Ɔpreshɔn fɔ kɔrɛkt di bon we nɔ de gro: If yu gɛt skɔliosis ɔ ɔda tin we nɔ de gro fayn, yu dɔktɔ kin tɛl yu fɔ yuz bres ɔ if i rili bad, yu fɔ du ɔpreshɔn.
• Kimotɛrapi: Dɛn kin gi dis tritmɛnt fɔ malign tumor. Kimotɛrapi kin pwɛl di kansa sɛl dɛn.
• Rεdyushכn tεrapi: Dɛn kin yuz rεdyushכn tεrapi fכ kכntrכl di tכmכro we de gro pan kansa dεm lεk brεst kεnsar, sכft tisu kεnsar we dεn kכl sarkoma, malignant peripheral nerve sheath tumor (MPNST), כ glioma (wan bren tכmכro).

If NF afɛkt yu yɛri ɔ yu yay, yu dɔktɔ kin tɛl yu fɔ yuz tin dɛn we go ɛp yu lɛk tin fɔ ɛp yu fɔ yɛri ɔ fɔ kɔrɛkt yu lens.

Ɛni bad tin de we di tritmɛnt kin du?

Ɛvri tritmɛnt gɛt sɔm kayn bad bad tin dɛn we kin apin to am. Yu dɔktɔ go tɔk bɔt dɛn tin ya wit yu bifo yu bigin fɔ trit yu.

Di bad tin dɛn we kin apin we dɛn du ɔpreshɔn:

• Blɔd we de kɔmɔt.
• Sik we de prɛd.
• Nyurofibromas we de kam bak afta dɛn dɔn pul am.
• Nɛv dɛn we dɔn pwɛl.

Di bad tin dɛn we kin apin we pɔsin de tek kimotɛrapi:

• Taya.
• Dayarɛa ɔ kɔnstipɛshɔn.
• Di ia we de lɔs.
• Di it nɔ de te.
• Nɔs ɛn vɔmit.

Wetin na di layf we pɔsin we gɛt Nyurofibromatosis (NF) kin liv?

Nyurofibromatosis (NF) nɔ kin gɛt bɛtɛ impak pan yu layf we yu de liv. Bɔt dipen pan usay di tumbu dɛn de, sɔm pan di tin dɛn we yu kin du ɛvride, lɛk fɔ yɛri ɛn si, kin at fɔ du if yu nɔ ɛp yu. If dɛn nɔ trit am, sɔm prɔblɛm dɛn lɛk kansa kin mek pɔsin in layf de pan denja.

Yu tink se dɛn kin mek dɛn nɔ gɛt Nyurofibromatosis (NF)?

Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt NF. If yu de plan fɔ mek yu gɛt famili, i go fayn fɔ mek yu tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks fɔ no mɔ bɔt di prɔblɛm we kin apin we yu gɛt pikin we gɛt wan sik.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ if yu ɔ yu pikin notis ɛni wan pan dɛn NF simptom ya na dɛn skin:

• Fɔ gɛt siks ɔ mɔ kafe au lait ples dɛn.
• Skin lumps de apin fɔ natin.
• Fɔ gɛt spat na yu an ɔ yu groin.

Ɔda sayn dɛm wae kin mek yu nid fɔ go to dɔktɔ:

• Chenj na di we aw yu de yɛri ɛn/ɔ di we aw yu de si tin.
• Pen we nɔ gɛt rizin.
• Di mɔsul dɛn we wik.
• Di finga ɛn fut finga dɛn kin swɛla ɔ swɛt.

If yu gɛt NF, yu dɔktɔ go mɔs se yu fɔ kam insay fɔ chɛk-ap ɔltɛm (bɔku tɛm ɛvri 6 to 12 mɔnt) fɔ wach yu sik dɛn. Mek shɔ se yu sɛtul ɔda apɔntinmɛnt if yu gɛt nyu sik ɔ if wan sik we yu dɔn gɛt dɔn wɔs.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

• Wetin de mek a gɛt dis sik?
• Wetin na di risk fɔ mek mi pikin dɛn we go kam fɔ gɛt dis sik?
• Us kayn tritmɛnt yu kin advays?
• Ɛni bad tin de we di tritmɛnt kin du?
• Aw ɔltɛm a fɔ kam fɔ fala-fala tɛst?
• Ɛni klinik trial de we a kin akses?
• A fɔ go to pɔsin we sabi bɔt fɔ bɔn pikin?

Nyurofibromatosis na wan sik wae de afɛkt yu nervɔs sistɛm ɛn yu skin. I kin afɛkt yu difrɛn we dɛn. Yu kin gɛt sɔm kayn sik wae de ambɔg yu ɛvride, ɔr yu nɔr kin gɛt ɛni sayn atɔl. Bɔrku tɛm, i kin dipen pan aw yu de si yu sik as yu de ol, i kin tek sɔm ia fɔ mek dɛn no ɔfishal di sik. Wae yu gɛt dis diagnosis, fɔ no gud gud wan wetin de apun kin bi big rilif. Yu mɛdikal tim kin ɛp yu fɔ no mɔ bɔt aw dis sik kin afɛkt yu ɛn sɔntɛm yu famili we yu go gɛt tumara bambay. Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, di tritmɛnt dɛn de we yu kin gɛt.

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

Nyurofibromatosis (NF) nɔto sɔntin we yu fɔ fred, bɔt na sɔntin we yu fɔ no bɔt.

• If yu gɛt spat dɛn we nɔ kɔmɔn, lumps na yu skin, ɔ bɔku spat na yu armpit/groin, go to dɔktɔ .
• Difrɛn kayn NF de, ɛn di sayn dɛm difrɛn fɔ ɛni wan.
• Dis na jεnεtik kכndyushכn, bכt i nכ de rכn na famili כltεm.
• Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, bɔku tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sik dɛn ɛn liv bɛtɛ layf .
• I rili impɔtant fɔ gɛt tritmɛnt ɔnda di sɔpɔtishɔn fɔ wan spɛshal mɛdikal tim.
• I impɔtant fɔ mek yu de chɛk yu dɔktɔ ɔltɛm ɛn de wach fɔ nyu sik dɛn.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu dɔktɔ. Dɛn go gladi fɔ ɛp yu.

` Nyurofibromatosis, NF, nεv tכmכro, café-au-lait spat, jεnεtik sik, skin spat, nεv sεstem