Isifo se-Stone Man’s, noma i-progressive ossifying fibrodysplasia (FOP) iyisifo esingavamile kakhulu futhi esikhubaza kakhulu isifo sofuzo. Imisipha kanye nemisipha yabantu abathintekile kancane kancane i-ossify: umzimba kancane kancane uvaleleke ku-matrix yamathambo. Okwamanje alikho ikhambi, kodwa ukutholakala kofuzo olubi kuvule indlela yocwaningo oluthembisayo.

Incazelo

I-progressive ossifying fibrodysplasia (PFO), eyaziwa kangcono ngaphansi kwegama lesifo somuntu wamatshe, iyisifo sofuzo esikhubaza kakhulu. Ibonakala ngokukhubazeka kokuzalwa kwezinzwane ezinkulu kanye ne-ossification eqhubekayo yezicubu ezithile ezithambile ezingaphandle kwamathambo.

Lokhu ossification kuthiwa heterotopic: qualitatively ithambo evamile kwakheka lapho ingekho, ngaphakathi imisipha striated, imisipha, imisipha kanye nezicubu ezixhumeneyo okuthiwa fascias futhi aponeuroses. Imisipha yamehlo, i-diaphragm, ulimi, i-pharynx, i-larynx nemisipha ebushelelezi iyasinda.

Isifo somuntu we-Stone siqhubekela phambili ekuqhumeni, okunciphisa kancane kancane ukuhamba nokuzimela, okuholela ku-ankylosis yamalunga nokukhubazeka.

Izimbangela

Isakhi sofuzo okukhulunywa ngaso, esiku-chromosome yesibili, satholwa ngo-April 2006. Esibizwa ngokuthi i-ACVR1/ALK2, silawula ukukhiqizwa kwesamukeli samaprotheni lapho izici zokukhula ezikhuthaza ukwakheka kwamathambo zibopha khona. Ukuguqulwa okukodwa - "uhlamvu" olulodwa "iphutha" kukhodi yofuzo - kwanele ukuqala lesi sifo.

Ezimweni eziningi, lolu shintsho luvela ngezikhathi ezithile futhi aludluliselwa enzalweni. Nokho, inani elincane lamacala ofuzo aziwa.

kwesifo

Ukuxilongwa kusekelwe ekuhloleni ngokomzimba, okulekelelwa ama-x-ray ajwayelekile abonisa ukungahambi kahle kwamathambo. 

Ukubonisana ngofuzo lwezokwelapha kuyasiza ukuze uzuze ocwaningweni lwamangqamuzana lwe-genome. Lokhu kuzokwenza kube nokwenzeka ukuhlonza uguquko okukhulunywa ngalo ukuze uzuze ekwelulekweni okwanele kofuzo. Ngempela, uma izinhlobo zakudala zalesi sifo zihlale zixhunyaniswa nokuguquguquka okufanayo, amafomu atypical ahlotshaniswa nezinye izinguquko ahlala engenzeka.

Ukuhlolwa ngaphambi kokubeletha akukatholakali.

Abantu abathintekayo

I-FOP ithinta abantu abangaphansi koyedwa kwabayizi-2 million emhlabeni jikelele (izigameko ezingu-2500 ezitholwe ngokusho kwe-Association FOP France), ngaphandle kokuhlukaniswa ngobulili noma ubuzwe. EFrance, abantu abangu-89 namuhla bakhathazekile.

Izimpawu zesifo ziqala ngokuqhubekayo. 

Ukukhubazeka kwezinzwane ezinkulu

Ngesikhathi sokuzalwa, izingane zivamile ngaphandle kokuba khona kokukhubazeka kokuzalwa kwezinzwane ezinkulu. Ngokuvamile, lezi zifushane futhi zichezukile ngaphakathi ("i-hallux valgus yamanga"), ngenxa yokukhubazeka okuthinta i-1st metatarsal, ithambo elide lonyawo elivezwe ne-phalanx yokuqala.

Lokhu kungalungile kungahlotshaniswa ne-mono phalangism; ngezinye izikhathi, futhi, lokhu kuwukuphela kwesibonakaliso sesifo. 

Kudlulela

Ukugoqa okulandelanayo kwemisipha kanye nemisipha ngokuvamile kwenzeka eminyakeni engamashumi amabili yokuqala yokuphila, kulandela ukuqhubekela phambili kusuka emzimbeni ongaphezulu kuya phansi futhi kusukela emuva kuya ebusweni bangaphambili. Bandulelwa ukubonakala kokuvuvukala okungaphezulu noma okuncane, okubuhlungu nokuvuvukala. Lokhu kuqubuka kokuvuvukala kungabangelwa ukuhlukumezeka (ukulimala noma ukushaqeka okuqondile), umjovo we-intramuscular, ukutheleleka ngegciwane, ukunwebeka kwemisipha, noma ngisho nokukhathala noma ingcindezi.

Okunye okudidayo

Ukungajwayelekile kwamathambo njengokukhiqizwa kwamathambo okungavamile emadolweni noma ukuhlanganiswa kwe-vertebrae yomlomo wesibeletho ngezinye izikhathi kubonakala eminyakeni yokuqala.

Ukulahlekelwa ukuzwa kungavela kusukela ekuthombeni.

Evolution

Ukwakheka "kwe-skeleton yesibili" kancane kancane kunciphisa ukuhamba. Ngaphezu kwalokho, izinkinga zokuphefumula zingase zivele ngenxa ye-ossification eqhubekayo ye-intercostal nemisipha yangemuva kanye nokukhubazeka. Ukulahlekelwa ukuhamba kwandisa ingozi yezenzakalo ze-thromboembolic (phlebitis noma i-pulmonary embolism).

Isilinganiso seminyaka yokuphila sineminyaka engaba ngu-40.

Okwamanje, akukho ukwelashwa okutholakalayo. Nokho, ukutholakala kofuzo okukhulunywa ngalo kwavumela intuthuko enkulu ocwaningweni. Abacwaningi bahlola ikakhulukazi indlela yokwelapha ethembisayo, engenza kube nokwenzeka ukuthulisa ukuguqulwa kofuzo ngokusebenzisa indlela ye-RNA ephazamisayo.

Ukwelashwa okuyizimpawu

Emahoreni okuqala angama-24 okuqubuka kwesifo, umthamo omkhulu wokwelashwa nge-corticosteroid ungase uqalwe. Uma ilawulwa izinsuku ezi-4, inganikeza impumuzo ethile ezigulini ngokunciphisa ukusabela okunamandla okuvuvukala nokuqubuka okubonwa ezigabeni zokuqala zesifo.

Izidambisi zinhlungu neziphumuza imisipha zingasiza ngobuhlungu obunzima.

Ukwesekwa kwesiguli

Zonke izinsiza ezidingekayo zomuntu kanye nezobuchwepheshe kufanele zisetshenziswe ukuze kuvunyelwe abantu abaphethwe yisifo somuntu wamatshe ukuba balondoloze ukuzimela okukhulu futhi bahlanganise imfundo ke ngokomsebenzi.

Ngeshwa, ukuvimbela ukuqala kwe-FOP akunakwenzeka. Kodwa izinyathelo zokuphepha zingathathwa ukuze kubambezeleke ukukhula kwayo.

I-prophylaxis yokubuyela emuva

Imfundo kanye nokulungiswa kwemvelo kufanele kuhloswe ukuvimbela ukulimala nokuwa. Ukugqoka isigqoko sokuzivikela kungase kunconyelwe izingane ezincane. 

Abantu abaphethwe isifo se-stone man kufanele futhi bakugweme ukuchayeka ezifweni ezibangelwa amagciwane futhi baqaphele kakhulu inhlanzeko yabo yamazinyo, njengoba ukunakekelwa kwamazinyo okuhlaselayo kungabangela ukuqubuka.

Noma iyiphi inqubo yezokwelapha ehlaselayo (ama-biopsies, ukuhlinzwa, njll.) ayivunyelwe ngaphandle kwalapho kunesidingo esikhulu. Imijovo ye-intramuscular (imithi yokugoma, njll.) nayo ayifakiwe.

Ukwelapha ngokomzimba

Ukuhlanganisa umzimba ngokunyakaza okuthambile kusiza ukulwa nokulahlekelwa ukuhamba. Ikakhulukazi, ukuvuselelwa kwedamu lokubhukuda kungaba yinzuzo.

Izindlela zokuqeqesha zokuphefumula nazo ziwusizo ekuvimbeleni ukuwohloka kokuphefumula.

Ezinye izindlela

• Ukuqapha kokuzwa
• Ukuvimbela i-phlebitis (ukuphakamisa izitho ezingezansi lapho ulele, amasokisi okucindezela, i-aspirin yedosi ephansi ngemva kokuthomba)