Yu kin gɛt bɔmp lɛk dis na yu skin? Lɛ wi lan bɔt di sik we dɛn kɔl Brooke-Spiegler Syndrome.

Yu dɔn ɛva notis smɔl smɔl bɔmp dɛn na yu skin, mɔ na yu fes, yu nɛk, ɔ yu skel, we de mɔna yu? Sɔntɛnde, yu nɔ kin no wetin dɛn bi ɔ wetin mek dɛn de apin. Tide wi go tɔk bɔt wan sik we kin mek pɔsin gɛt dis kayn bɔmp, bɔt i nɔ kin apin smɔl, we min se i nɔ kin apin to ɔlman. Dɛn kɔl dis Bruk-Spigler Sindrom. Nɔ wɔri, lɛ wi tɔk bɔt dis simpul wan.

Wetin na Bruk-Spigla Sindrom?

Fɔ tɔk am simpul wan, Bruk-Spigla Sindrom na wan sik we nɔ kin apin so ɔltɛm na di skin . I kin mek lump (we dɛn kin kɔl bak tumbu) fɔm na yu skin, mɔ na yu fes, nɛk, ɛn skel. Sɔntɛnde, dɛn lumps ya kin fɔm bak pan ɔda pat dɛn na yu bɔdi. Bɔku tɛm, dɛn kin bigin fɔ apia we yu yɔŋ, lɛk ettin ɔ twɛnti ia so .

We i kam pan dɛn lumps ya, bɔku tɛm dɛn nɔ kin gɛt kansa (dat na, dɛn na `benign`), dat na, dɛn nɔ kin gɛt benign. Bɔt wi fɔ mɛmba bak se, sכm tεm, as tεm de go, dεn kin bi kεnsar (dat na, dεn na `malignant`). sכmtεm, we dεn benign lumps ya de gro, dεn kin inju, bi `open wund`, εn kin ivin mek infεkshכn.

Bɔku tɛm, dis sik kin kɔmɔt frɔm yu mama ɛn papa, we min se na sik we yu gɛt frɔm yu jɛnɛtiks . Bɔt, na smɔl tɛm nɔmɔ pɔsin kin gɛt di sik we dɛn kɔl Brooks-Spiegel syndrome ilɛksɛf nɔbɔdi nɔ gɛt dis sik na di famili.

Di bɛst tin na dat, tritmɛnt de fɔ dis. Bɔku tɛm, na ɔpreshɔn nɔmɔ dɛn kin du. If dɛn trit dɛn fayn, bɔrku pipul dɛm wae gɛt dis sik kin liv nɔrmal, gladi, ɛn aktif layf.

Ɔda nem dɛn de fɔ dis?

Yɛs, dɔktɔ dɛn kin yuz bɔku ɔda nem dɛn fɔ dis sik we dɛn kɔl Bruk-Spigler. Yu kin yɛri dɛn nem dɛn ya bak:

• Ancell-Spiegler silindroma dɛn
• CYLD cutaneous syndrome (CCS) we de mek pɔsin gɛt sik .
• Silindromatosis na famili (FC) .
• Bɔku famili trikoɛpitɛliɔm (MFT) .

Pan ɔl we dɛn nem ya kin tan lɛk se dɛn kɔmplikt smɔl, dɛn ɔl na nem fɔ di sem kɔndishɔn.

Aw kɔmɔn tin dis kin apin?

Dis na rili wan sik we nɔ kin apin so ɔltɛm . Risach pipul dɛn se lɛk wan pan ɛvri milyɔn pipul dɛn kin gɛt di sik we dɛn kɔl Brooks-Spiegel syndrome. So, i nɔto sɔntin we rili kɔmɔn.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Si if yu get dis tu...

di men sayn fכ dis kכndyushכn na di fכmeshכn fכ di skin bכmp . Bɔku tɛm, dɛn tin ya kin bigin na yu fes, yu nɛk, ɛn yu ed. Dɛn bɔmp ya kin gɛt rawnd rawnd ɛn dɛn kin gɛt sayz frɔm 0.5 to 3 sɛntimita (cm).

As tɛm de go, dɛn lumps ya kin bɔku ɛn saiz. Sɔntɛnde, dɛn kin mek pɔsin nɔ gɛt bɛtɛ bɔdi. Bɔku tɛm, dɛn lumps ya kin mek pɔsin fil pen . Dɔn bak, if dɛn fɔm pan di skin na di say we di uman in bɛlɛ de, dɛn kin mek pɔsin nɔ ebul fɔ du mami ɛn dadi biznɛs fayn. Wan ɔda tin na dat sɔntɛnde dɛn tin ya kin skata ɔlsay na di ed ɛn mek yu ia lɔs . Dɛn tin ya kin mek pɔsin fil bad bak.

Apat frɔm dɛn bɔmp ya, sɔntɛnde yu kin si smɔl, wayt, tin dɛn we tan lɛk blista (milia) na yu skin. Dɛn ‘milia’ ya nɔr de du bad, bɔt dɛn kin mɔna sɔm pipul dɛm.

Wetin na dɛn kayn tumbu ya? (Tayp dɛn fɔ di skin tumor dɛn na BSS)

Tri men kayn lumps de we dɛn kin si pan Bruk-Spiegler sindrom:

1. Silindroma: Dɛn kin bi smol smol, pink lumps. Bɔku tɛm dɛn kin divɛlɔp na di skel, usay di ia fɔlikul dɛn de. Dɛn kin divɛlɔp bak na di fes, yes, ɛn nɔ kin apin so ɔltɛm na di lɔng. Dɛn kin gɛt sayz frɔm sɔm milimita to sɔm sɛntimita. We dɛn de divɛlɔp na di skel, dɛn kin gɛda togɛda ɛn tan lɛk sɔm pat dɛn pan jigsaw pazl.

2. Spiradenomas: Dɛn tin ya na tin dɛn we strɔng ɛn we gɛt bɔku bɔku wata. Dɛn kin de mɔ na di skel, nɛk, ɛn ɔp pat na di bɔdi. Dɛn kin gɛt sayz frɔm less dan wan sɛntimita to sɔm sɛntimita. Bɔku tɛm, dɛn kin gɛt blu ɔ skin kɔlɔ. Bɔt dɛn kin bi grey, pink, pepul, rɛd, ɔ yɔlɔ bak. Spiradenomas kin mek yu fil pen sɔmtɛm.

3. Trichoepitheliomas: Dɛn tin ya bak na tin dɛn we at ɛn we de shayn. Dɛn kin apin mɔ na di fes, na say dɛn we gɛt ia. Bɔku tɛm, dɛn kin smɔl pas wan sɛntimita. Dɛn kin bi blu, brawn, skin kɔlɔ, pink, ɔ yɔlɔ.

di imכtant tin na dat sכmtεm insay dis Bruk-Spigler sεndrכm, dεn kin si di kכntribyushכn fכ tu כ tri pan dεn kayn tכmכro dεm ya na di sem tכmכro.

Dis sik kin afɛkt ɔda pat dɛn na di bɔdi?

Yɛs, sɔntɛnde dɛn lumps ya kin kam na ɔda pat dɛn na di bɔdi. If dɛn kayn tin ya apin, di we aw dɛn ɔgan dɛn de wok kin afɛkt. Fɔ ɛgzampul:

• If i fɔm na di say dɛn we di briz de blo , i kin mek i nɔ izi fɔ blo.
• If i de divɛlɔp na di yes , i kin afɛkt di we aw pɔsin de yɛri.
• If i apin na di yay , i kin afɛkt di we aw pɔsin de si.
• If dεn fכm pan di jεnital , di sεks fכnshכn kin afekt.
• If i de divεlכp na di mכt εn di saliva gland dεm , i kin afekt di chεf εn sכlow.
• NosIf i apin, i kin afɛkt di sɛns fɔ smɛl.

Wetin mek Bruk-Spigla Sindrom kin apin?

di men rizin fכ dis na di jεnεtik chenj dεm (`mutations`) na di `CYLD` jin na wi bכdi. Fɔ mek yu gɛt dis sik, at le wan pan yu mama ɛn papa fɔ bi pɔsin we gɛt dis jenɛtik mutation. Dis min se dɛn kin pas am frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn .

Bɔt, na smɔl tɛm nɔmɔ, pɔsin we nɔ gɛt famili histri bɔt di sik kin gɛt dis jin muteshon (`de novo mutation`) na in bɔdi. insay dεn kayn kes dεm ya, di jin mכtεshכn kin כnli de na sכm pat dεm na di bכdi. Dɔn, na dɛn pat dɛn de nɔmɔ di tumbu kin kam.

Udat dɛn kin gɛt dis sik mɔ?

Infakt, ɛnibɔdi we gɛt ɛni ej, rays, ɔ man ɔ uman kin gɛt di sik we dɛn kɔl Brooks-Spiegel syndrome. Bɔt if wan pan yu mama ɛn papa gɛt di jin we gɛt fɔ du wit di sik, yu go gɛt dis sik.

Bruk-Spigler sindrom na wan ɔtosomal dominant disɔda. Fɔ tɔk am simpul wan, if wan pan yu mama ɛn papa na pɔsin we gɛt di sik (i.e., gɛt sɔm kayn sik), yu gɛt 50% chans fɔ gɛt di sik .

Bɔrku pipul kin fɔs kin gɛt dis sik wae dɛn yɔŋ, lɛk ettin ɔr twɛnti ia . di nכmba fכ dεn lumps ya kin bigin fכ inkrεs we dεn ol 30 εn 40 ia. Dɛn dɔn si bak se uman dɛn kin gɛt mɔ lump pas man dɛn.

Aw dɔktɔ dɛn kin no bɔt dis?

If yu gɛt dɛn sik ya, dɔktɔ go aks yu fɔs bɔt yu sik, yu mɛdikal histri, ɛn yu famili in mɛdikal histri. Dɔn dɛn go du ɛgzam fɔ dɛn bɔdi.

If di dɔktɔ tink se Bruk-Spiglar sindrom, i kin se dɛn fɔ tek di skin bayɔpsi , we min se dɛn fɔ tek smɔl smɔl sɛl dɛn frɔm di lump ɛn sɛn am na lab fɔ mek dɛn chɛk am ɔnda maykroskɔp.

Yu dɔktɔ kin tɛl yu bak fɔ tɛst yu jɛnɛtiks , we kin luk fɔ chenj dɛn na di jin dɛn we kin mek yu gɛt Brooks-Spiegel syndrome.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Bɔt i sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ mek pɔsin gɛt Bruk-Spigel sindrom. Bɔt nɔ wɔri. Dɛn gɛt fayn tritmɛnt fɔ ɛp fɔ pul dɛn lumps ya ɛn kɔntrol aw di sik de go bifo.

So wetin na di tritmɛnt dɛm fɔ BSS?

Yu dɔktɔ go mɔs tɛl yu fɔ du ɔpreshɔn fɔ pul dɛn lumps ya. Dis min se yu fɔ kɔt di lumps wit wan shap inschrumɛnt we dɛn kɔl skel. We dɛn de du dat, dɔktɔ dɛn kin tek tɛm fɔ mek dɛn nɔ pwɛl di wɛlbɔdi skin we de rawnd am as dɛn ebul.

Sɔntɛnde, if dɛn nid fɔ pul bɔku say na di ed skin, yu dɔktɔ kin pul amDɛn kin se yu fɔ yuz split tik skin graft. Dis min se yu fɔ tek wan layt pan yu skin frɔm ɔda pat na yu bɔdi, bɔku tɛm frɔm di bɔdi ɔ di ɔp pat na yu shɔl, fɔ lɔk di wund ɛn ɛp am fɔ wɛl.

Apat frɔm dis, sɔm ɔda we dɛn de fɔ trit Bruck-Spiegler syndrome:

• Carbon dioxide laser resurfacing: Dis de yuz laser bim fɔ pul di tin layers na di skin we nɔ go pwɛl di tisu we de rawnd.
• Krayotɛrapi: Dis kin min fɔ put kol pasmak fɔ friz ɛn pwɛl di tisu we de na di lump. I tan lɛk se yu de bɔn am wit ays.
• Dεmabrashכn: Dis na fכ yuz wan tin we de rכt kwik kwik wan fכ pul di tכp layt na di skin.
• Ilektrodessication: Dɛn kin yuz ilɛktrik kɔrɛnt fɔ dray di tisu we de insay di lump.
• Fulguration: Na we dɛn de yuz ilɛktrik shɔk fɔ pwɛl di tumbu.
• Hyfrecation: Dɛn kin sɛn ilɛktrik puls tru wan smɔl nidul, we kin bɔn ɛn pul di wɔt.
• Mohs ɔpreshɔn: Insay dis ɔpreshɔn, di ɔspitul kin pul di tɔŋ wit smɔl wɛlbɔdi tisu we de rawnd am ɛn sɛn am fɔ mek dɛn chɛk am.
• Fɔtodaynamik tɛrapi: Insay dis, dɛn kin gi spɛshal drɔgs (photosensitizers), ɛn afta dat dɛn kin put layt pan di tɔŋ, we kin mek di drɔgs dɛn wok ɛn pwɛl di tɔŋ dɛn.

Apat frɔm dɛn tritmɛnt ya, dɔktɔ dɛn kin tɛl yu bak se dɛn fɔ tek mɛrɛsin we go ɛp fɔ mek di tumbu dɛn nɔ gro.

Wetin yu kin ɛkspɛkt we yu de liv wit dis sik?

Brooks-Spiegel syndrome na wan sik wae de mɛk pɔrsin gɛt wɛl bɔdi fɔ ɔl in layf . Bɔt lɛk aw wi bin dɔn tɔk, pipul dɛm wae gɛt dis sik kin liv nɔrmal, ful layf.

Bɔt, smɔl risk de. Bitwin 5% ɛn 10% pan di pipul dɛm wae gɛt Bruck-Spiegel syndrome kin gɛt malignant tumor . Pipul wae gɛt dis sik kin gɛt ɔda kayn kansa bak smɔl. Fɔ ɛgzampul:

• Adenokarsinoma kansa dɛn
• Basal sel kansa (na kansa bak na di skin) .
• Saliva gland kansa, fכ egzampl adenoid sistik kansa
• Squamous cell carcinoma (na kansa bak na di skin) .

Wetin go apin tumara bambay? (Autluk) .

Bɔku tɛm, dɛn lumps ya kin kam bak . If dis apin, dɛn kin nid fɔ du mɔ ɔpreshɔn ɔ ɔda tritmɛnt dɛn fɔ pul di nyu lumps.

Yu tink se we de fɔ ridyus dis tin we kin apin?

Bɔt i sɔri fɔ no se, no patikyula we nɔ de fɔ mek yu nɔ gɛt ɔ ridyus di risk fɔ gɛt Bruk-Spigel sindrom. Bɔt lɛk aw wi bin dɔn tɔk, tritmɛnt kin mek yu nɔ gɛt bɔku bɔku bɔm ɛn dɛn saiz.

Aw yu kin tek kia ɔf yusɛf as pɔrsin wae gɛt Bruk-Spigler Syndrome?

We yu de liv wit dis sik, sɔm impɔtant tin dɛn de we yu kin du fɔ kia fɔ yusɛf:

• Si dɔktɔ we de mɛn yu skin ɔltɛm fɔ chɛk yu skin. Dɛn fɔ du dis wan tɛm insay di ia. Sɔm pipul dɛn kin nid fɔ go to dɔktɔ ɛvri tri to 4 mɔnt if dɛn kin gɛt brek-ɔut ɔltɛm.
• Du wan skin sɛlf-ɛgzam at le wan tɛm insay di mɔnt. Luk fɔ nyu bɔmp ɔ chenj dɛn na di wan dɛn we dɔn de.
• Mek shɔ se yu yuz sanskrin we yu de go na do na di san. Dis go ɛp fɔ ridyus di damej we di san de pwɛl yu skin ɛn ridyus di risk fɔ gɛt kansa na yu skin.

Wetin na di bɛst tɛm fɔ go to dɔktɔ?

If yu notis ɛni wan pan dɛn chenj ya na yu skin bɔmp, yu fɔ go to dɔktɔ wantɛm wantɛm :

• If di lumps dɛn bigin fɔ fil pen .
• If di lumps de blɔd .
• If di kɔlɔ fɔ di lumps chenj .
• If di lumps de big kwik kwik wan .
• If di lump luk lεk כlsa (`ulcerated`) .

Dɔn bak, if yu de op fɔ gɛt pikin, dat min se if yu de plan fɔ gɛt bɛlɛ, i kin rili impɔtant fɔ tɔk to dɔktɔ ɛn gɛt advays bɔt yu jɛnɛtiks .

Wetin na di difrɛns bitwin Bruk-Spigler Sindrom ɛn Nyurofibromatosis?

Dɛn tu sik ya na tin dɛn we pɔsin kin gɛt frɔm in jɛnɛtiks. Dɛn tu kin mek mɔ benign (nɔ gɛt kansa) tumor. Bɔt, smɔl difrɛns de.

• Insay Brooke-Spiegler syndrome (BSS), lumps kin apin mɔ na di skin .
• Insay nyurofibromatosis, lumps kin kam na di skin, ɔnda di skin, ɛn along yu nerves .

Tri men kayn nyurofibromatosis de. Lɛ wi lan smɔl bɔt dɛn:

• Nyurofibromatosis tayp 1 (NF1): insay dis, lumps (nyurofibromas) de divεlכp pan כ כnda di skin.
• Nyurofibromatosis tayp 2 (NF2): Insay dis kayn nyurofibromatosis, di tכmכro dεm (schwannomas) de divεlכp na di nεv dεm na di bren εn di spεnal kכd (pεriferal nεv sεstem). Bɔku tɛm, di ɔditɔri nɛv dɛn kin afɛkt.
• Di sik we dɛn kɔl Schwannomatosis:dis kin involv bak tכmכro dεm we dεn kכl schwannomas, bכt dεn de na di pεrifεral nεv sεstem. Bɔrku tɛm, dɛn nɔr kin afɛkt di nerv dɛm wae de involv fɔ yɛri.

So, pan ɔl we dɛn tu sik ya na jɛnɛtik kɔndishɔn we kin mek pɔsin gɛt lumps, smɔl difrɛns de pan di say dɛn we dɛn kin afɛkt ɛn di kayn lumps.

Mɛsej we dɛn kin kɛr go na os

Okay, so a op se naw yu dɔn ɔndastand mɔ bɔt di Bruk-Spigler Syndrome we wi bin tɔk bɔt tide.

Mɛmba se if yu notis nyu bɔmp dɛn na yu skin, mɔ na yu fes, nɛk, ɔ yu skel, ɔ if yu notis chenj na wan we dɔn de, nɔ ignore am. I bɛtɛ fɔ go to dɔktɔ ɛn mek dɛn chɛk am.

Pan ɔl we Brooke-Spiegel syndrome na wan sik we nɔ kin apin so ɔltɛm, i impɔtant fɔ no bɔt am. Pan ɔl we bɔku tɛm dɛn lumps ya nɔ kin fayn, dɛn nɔ kin gɛt kansa, so i impɔtant fɔ go to dɔktɔ ɛn tritmɛnt we rayt . If dɛn no am kwik ɛn dɛn de manej am fayn, yusɛf kin liv nɔmal, wɛlbɔdi layf. Natin nɔ de fɔ wɔri bɔt, ɛnitin kin sɔlv bay we yu tɔk to yu dɔktɔ.

` Bruk-Spigler sεndrכm, skin nodul dεm, jεnεtik sik dεm, silindrכma, spiradenom, trichoepithelioma, CYLD jin