Nea ɛsɛ sɛ wuhu fa Barber Say Syndrome ho: So wo ba no wɔ saa sɛnkyerɛnne ahorow yi?

Akokoaa a wɔawo no foforo yɛ anigye kɛse ma abusua, ɛnte saa? Obiara retwɛn sɛ obehu sɛnea akokoaa no yɛ fɛ. Nanso, ɛtɔ da bi a, ɛntaa mma mpo, sɛ yehu nsakrae bi wɔ yɛn ba kumaa no honam ani hwɛbea mu a, ɛna anaa agya betumi ate dadwen ne ehu nka kɛse. Saa ara na Barber Say Syndrome yɛ awosu mu yare a ɛba nnipa kakraa bi pɛ mu wɔ wiase. Momma yɛnka eyi ho asɛm nkɔ akyiri kakra nnɛ, efisɛ ɛho hia yiye sɛ yehu eyi.

Dɛn ne Barber Say Syndrome?

Sɛ yɛbɛka no tiawa a, Barber-Sey yare no yɛ awosu mu yare a ɛntaa nsi koraa . Ɛyɛ awosu, a ɛkyerɛ sɛ ɛwɔ hɔ bere a wɔawo no . Saa tebea yi betumi ama nsakrae anaa nneɛma bi a ɛnteɛ aba abofra a wɔawo no foforo no nipadua mu, titiriw wɔ akyi hwɛbea te sɛ anim.

Nanso ade a ɛho hia sen biara a ɛsɛ sɛ yɛkae wɔ ha ne sɛ mpɛn pii no tebea yi nka akokoaa no mu akwaa anaa nhumu tumi (adwene) . Eyi kyerɛ sɛ ebia sɛnea akokoaa no susuw nneɛma ho na osua ade no bɛkɔ so ayɛ nea ɛfata. Nanso, sɛnea sɛnkyerɛnne ahorow yi te ne sɛnea emu yɛ den no betumi ayɛ soronko wɔ akokoaa biara mu. Ebia nkokoaa binom behyia:

• Anim a ɛda nsow.
• Nwi a enyin dodo wɔ ɔkwan a ɛnteɛ so (hypertrichosis) .
• Wora a ɛyɛ tratraa yiye, ɛyɛ mmerɛw (atrophic) .

Henanom na wobetumi anya saa tebea yi? Ɛtaa ba dɛn?

Esiane sɛ Barber-Say yare no yɛ awosu mu yare nti, ebetumi aka obiara. Nanso, ɛyɛ tebea a ɛntaa nsi koraa . Ɛba wɔ awo a ennu ɔpepem biako biara mu wɔ wiase nyinaa. Nyansahufo gye di sɛ wɔ ɔman te sɛ United States mu no, nnipa 1 kosi 300 na wɔwɔ saa yare yi. Enti, wubetumi asusuw sɛnea eyi ho yɛ na no ho, ɛnte saa?

Dɛn ne sɛnkyerɛnne ahorow no? Woyɛ dɛn hu no?

Wobetumi ahu Barber-Say yare no ho sɛnkyerɛnne wɔ awo mu (wɔ awo mu) . Nanso, sɛnea yɛadi kan aka no, ɛnyɛ nkokoaa nyinaa na wobenya yare no ho sɛnkyerɛnne koro, na sɛnea sɛnkyerɛnne no mu yɛ den nso betumi ayɛ soronko.

Nneɛma pɔtee bi a wotumi hu wɔ anim

Saa tebea yi betumi ama nsakrae bi a ɛda adi wɔ akokoaa no anim. Nhwɛsoɔ:

• Aniwa nhwi a enni hɔ anaasɛ ɛnyɛ yiye koraa .
• Aniwa a ɛwɔ ntam kɛse .
• Aniwa nhwi a enni hɔ.
• Aniwa a ɛdannan akɔ akyi .
• Ɔkwan a ɛda akokoaa no aniwa ntwea so baabi a n’aniwa a ɛwɔ soro ne nea ɛwɔ fam no hyia no sõ sen sɛnea ɛte daa.
• Hwene a ɛdannan .
• Hwene kɛse a ɛyɛ kurukuruwa.
• Anom bridge a ɛtrɛw.
• Ano a ɛtrɛw.
• Ɛse a ɛpae akyiri yi .

Honam fam su afoforo

Wɔ anim a ɛyɛ fɛ akyi no, wubetumi ahu nneɛma afoforo te sɛ:

• Nwi a enyin dodo (hypertrichosis) a ɛnyɛ ne kwan so wɔ akokoaa no nipadua fã kɛse no ara so.
• Wora no yɛ mmerɛw yiye na ɛyɛ mmerɛw . Saa were yi yɛ nea ɛyɛ den sen sɛnea ɛte daa na ɛsan kɔ ne mfitiase tebea mu bere a wɔatrɛw mu (hyperextensible skin).
• Aso a ɛyɛ mmerɛw .
• Nufu mu ntini a enni hɔ anaasɛ kakraa bi pɛ.
• Nufusu a enni hɔ anaasɛ ennyin yiye.
• Sɛ obi ntumi nnya nkɔso . Eyi kyerɛ sɛ akokoaa no mu duru reyɛ kɛse na ɔrenyin nkakrankakra.

Dɛn nti na tebea yi ba? Dɛn ne nea enti a ɛte saa?

Nea ɛde Barber-Say yare no ba titiriw ne awosu mu nsakrae anaa nsakrae a ɛba awosu mu nkwaadɔm `TWIST2` mu . Saa awosu mu abɔde yi yɛ protein bi a ɛka ho ma nnompe mu nkwammoaa nyin wɔ yɛn nipadua mu. Enti, sɛ sintɔ bi wɔ saa awosu mu abɔde yi mu a, yare yi su ho sɛnkyerɛnne ahorow no da adi.

Esiane sɛ saa yare yi ho yɛ na nti, nhwehwɛmu a wɔyɛ wɔ ɔkwan a wɔfa so nya agyapade ho no sua. Mpɛn pii no, wohu sɛ sɛ abofra nya awosu mu nkwaadɔm a wɔayɛ no foforo fi awofo no mu biako hɔ a, ɛda adi sɛ abofra no benya yare no . Wɔfrɛ eyi sɛ autosomal dominant pattern .

Nanso ɛtɔ mmere bi a wobetumi anya afi awo mu wɔ autosomal recessive nhyehyɛe mu . Eyi kyerɛ sɛ sɛ abofra no nya awosu mu nkwaadɔm a wɔayɛ no foforo no fi awofo baanu no nyinaa hɔ nkutoo a . Wɔ tebea afoforo mu no, abofra betumi anya tebea no esiane nkwaadɔm mu nsakrae foforo (de novo mutation) wɔ TWIST2 awosu mu abɔde mu , a abusua no mu biara nni yare no pɛn.

Ɔkwan bɛn so na wohu eyi?

Wo ba no duruyɛfo bedi kan ayɛ ne nipadua mu nhwehwɛmu . Wɔ nhwehwɛmu yi mu no, wɔbɛhwehwɛ tebea no ho sɛnkyerɛnne pɔtee bi te sɛ anim nsakrae, nhwi a enyin dodo, ne honam ani hwɛbea. Wobebisa w’abusua abakɔsɛm a wowoo wo ho asɛm nso.

Nea ɛbɛyɛ na oduruyɛfo no akyerɛ sɛ wɔahu yare no, ɔbɛhyɛ sɛ wɔnyɛ awosu mu nhwehwɛmu . Nea ɛka eyi ho ne sɛ wɔbɛfa akokoaa no mogya ketewaa bi na wɔahwehwɛ awosu mu nsakrae. Specifically, they look for a mutation in the previously mentioned `TWIST2` gene .

Dɛn ne ayaresa ahorow no?

Sɛ yɛbɛka nokware a, wonnya nnyaa Barber-Say yare no ano aduru pɔtee biara . Nanso, egyina akokoaa no yare no ho sɛnkyerɛnne so no, wobetumi ayɛ ayaresa nhyehyɛe pɔtee bi ama akokoaa biara.Wo ba no mmofra oduruyɛfo ne nnuruyɛfo kuw bi bɛyɛ adwuma ayɛ eyi. Ebia eyinom bi ne:

• ‍ `(Ophthalmologist)` : ‍ .
• Dermatologist : Oduruyɛfo a ɔsa nyarewa a ɛfa honam ani, ti nhwi, ne nnadewa ho.
• Awosu mu ɔfotufo : Akwahosan ho ɔbenfo a ɔboa wo ma wote asiane a ɛwɔ awosu mu yare bi a wubenya wɔ awo mu anaasɛ wode bɛma wo ba no ase.

Sɛ́ ayaresa foforo no, oprehyɛn ahorow pii wɔ hɔ a wobetumi ayɛ de asiesie dɛmdi ahorow a ɛwɔ akokoaa nipadua mu. Nnipa pii hu nsonsonoe kɛse ansa na wɔayɛ oprehyɛn yi ne bere a wɔayɛ no akyi. Oprehyɛn ahorow yi betumi ayɛ:

• Nsõ oprehyɛn a ɛfa anim, ano, anaa anom (maxillofacial oprehyɛn).
• Anim plastic oprehyɛn, te sɛ biribi a wɔde hyɛ anim (malar implants).
• Aniwa anim oprehyɛn (`blepharoplasty` anaa `tarsorrhaphy`).
• Oprehyɛn a wɔsan yɛ hwene (rhinoplasty).
• Anofafa oprehyɛn `(cheiloplasty)`.
• Oprehyɛn a wɔde teɛteɛ anom (orthognathic oprehyɛn).
• Chin oprehyɛn (genioplasty) a wɔyɛ.
• Nufu a wɔma ɛyɛ kɛse (wɔyɛ eyi wɔ mmerantebere ne mmabaabere akyi).

Ayaresa afoforo a wobetumi apaw bi ne:

• Laser ayaresa a wɔde sa nhwi nyin dodo (hypertrichosis).
• Wobetumi de nusu a wɔayɛ, nnuru a wɔde sra aniwa so, ne nnuru a ekum ɔyare mmoawa adi aniwa mu haw afoforo .

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw eyi ano?

Esiane sɛ Barber-Say yare no yɛ awosu mu yare nti, ɔkwan biara nni hɔ a wɔbɛfa so asiw ano . Nanso, sɛ worehwɛ abofra kwan a, ɛho hia sɛ wo ne wo duruyɛfo kasa fa awosu mu nhwehwɛmu ho . Awosu mu nhwehwɛmu betumi aboa wo ma woate asiane a ɛwɔ hɔ sɛ wode awosu mu nkwaadɔm bi bɛma wo ba no ase.

Abofra a ɔwɔ Barber Say Syndrome nkwa nna yɛ dɛn?

Ɛwom sɛ eyi betumi ayɛ te sɛ adesoa kɛse a ɛsɛ sɛ wɔte de, nanso obi a ɔwɔ Barber-Se yare no nkwa nna yɛ nea ɛfata . Sɛ wo ba no wɔ nipadua mu haw ahorow te sɛ dɛmdi ahorow, sɛnea yɛadi kan aka ho asɛm no mpo a, mpɛn pii no, saa yare yi nka ne mu akwaa anaa ne nyansa . Enti, ɛsɛ sɛ akokoaa no ntini mu nkɔso ne ne kasa mu nkɔso nyin sɛnea ɛsɛ.

Nanso, awiei koraa no, wo ba no akwahosan a ɛbɛtra hɔ akyɛ no begyina sɛnea ne sɛnkyerɛnne ahorow no te ne sɛnea emu yɛ den so. Enti, ɛbɛyɛ papa sɛ wubebisa wo duruyɛfo no wo ba no nkwa nna pɔtee ho asɛm.

Nsɛmmisa a ɛho hia a ɛsɛ sɛ wubisa wo duruyɛfo

Ɛyɛ ade a ɛfata sɛ wubenya nsɛmmisa pii wɔ w’adwene mu wɔ bere a ɛte sɛɛ mu. Bisa wo ba no oduruyɛfo nsɛm te sɛ eyinom na aboa wo ma woasiesie wo haw ahorow:

• Saa tebea yi ho yɛ na dɛn wɔ me ba no mu?
• Me ba no ho sɛnkyerɛnne no yɛ aniberesɛm dɛn?
• Ayaresa bɛn na me ba hia?
• Oprehyɛn bɛn na me ba no behia?
• Dɛn ne me ba no nkwa nna?

Ɔwofo a wobɛyɛ nea edi kan no betumi ayɛ osuahu a ɛyɛ hu. Sɛ wubehu sɛ wo ba no wɔ awosu mu yare bi a ɛntaa nsi a, ebetumi ayɛ den kɛse mpo. Sɛ wo ba no wɔ Barber-Sey yare a, susuw ho sɛ wobɛka kuw bi a wɔboa mmofra a wɔwɔ tebea horow a wɔntaa nhu wɔn mmusua ho . Kuw a ɛte saa betumi ayɛ ɔkwan pa a wobɛfa so anya wo nsɛmmisa ho mmuae na woanya anidaso wɔ wo ba no tebea ho.

Awiei koraa no, nkrasɛm a wɔde kɔ fie

Yɛwɔ anidaso sɛ nea yɛaka ho asɛm no ama woanya Barber Say Syndrome ho nhumu bi. Kae sɛ, sɛ wo ba no nipadua mu nsakrae bi wɔ ne honam ani mpo a, ɛsɛ sɛ n’adwene tumi yɛ nea ɛfata . Eyi kyerɛ sɛ ɛsɛ sɛ wo ba no tumi tra ase sɛnea ɛsɛ na ɛsow aba .

Nea ɛho hia sen biara ne sɛ woremmɔ hu, wubenya aduruyɛ mu afotu a ɛfata, na woama wo ba no ɔdɔ ne ɔhwɛ a ohia. Sɛ wowɔ nsɛmmisa bi a, wo ne wo nnuruyɛfo nkasa pefee. Wɔasiesie wɔn ho sɛ wɔbɛboa wo.

Yɛwɔ anidaso sɛ saa nsɛm yi so baa mfaso maa wo!

` Barber Say Syndrome, awosu mu nyarewa, nyarewa a ɛntaa nsi, mmofra akwahosan, anim dɛmdi, honam ani nyarewa, awosu mu afotu