Stone man's disease, kapa progressive ossifying fibrodysplasia (FOP) ke lefu le sa tloaelehang haholo le le sitisang haholo liphatsa tsa lefutso. Mesifa le li-tendon tsa batho ba amehileng li fetoha butle-butle: butle-butle 'mele o qabeletsoe ka har'a matrix a masapo. Hajoale ha ho na pheko, empa ho sibolloa ha lefutso le khopisang ho butse tsela bakeng sa lipatlisiso tse tšepisang.

Tlhaloso

Progressive ossifying fibrodysplasia (PFO), e tsejoang hamolemo ka tlas'a lebitso la lefu la motho oa majoe, ke lefu la lefutso le holofatsang haholo. E khetholloa ka ho holofala ha tlhaho ea menoana e meholo ea maoto le ka ho ossification ho tsoelang pele ha lisele tse ling tse bonolo tsa extraskeletal.

Ho boleloa hore ossification ena ke heterotopic: lesapo le tloaelehileng la boleng le thehoa moo le le sieo, ka har'a mesifa e tsitsitsoeng, li-tendon, ligaments le li-tissue tse kopanetsoeng tse bitsoang fascias le aponeuroses. Ho bolokeha mesifa ea mahlo, diaphragm, leleme, pharynx, larynx le mesifa e boreleli.

Lejoe la lefu la motho le ntse le tsoela pele ka li-flare-ups, tseo butle-butle li fokotsang ho tsamaea le ho ikemela, tse lebisang ho ankylosis ea manonyeletso le ho senyeha.

Lisosa

Lefutso leo ho buuoang ka lona, ​​le leng ho chromosome ea bobeli, le ile la fumanoa ka April 2006. E bitsoa ACVR1 / ALK2, e laola tlhahiso ea protheine receptor eo lintlha tsa kgolo tse susumetsang ho thehoa ha masapo li tlamahanang. Phetoho e le 'ngoe - "tlhaku" e le' ngoe "phoso" ka liphatsa tsa lefutso - e lekane ho baka lefu lena.

Maemong a mangata, phetoho ena ea liphatsa tsa lefutso e hlaha hang-hang 'me ha e fetisetsoe ho bana. Leha ho le joalo, palo e fokolang ea linyeoe tsa lefutso li tsejoa.

Diagnostic

Tlhahlobo e thehiloe tlhahlobong ea 'mele, e tlatselletsoang ke li-x-ray tse tloaelehileng tse bontšang ho se tloaelehe ha masapo. 

Ho buisana ka liphatsa tsa lefutso tsa bongaka ho molemo ho rua molemo thutong ea limolek'hule ea genome. Sena se tla etsa hore ho khonehe ho tseba phetoho ea phetoho eo ho buuoang ka eona e le hore u rue molemo ka tlhabollo e lekaneng ea liphatsa tsa lefutso. Ka 'nete, haeba mefuta ea khale ea lefu lena e lula e hokahane le phetoho e tšoanang, mefuta e sa tloaelehang e amanang le liphetoho tse ling e ntse e khoneha.

Tlhahlobo ea bakhachane ha e so fumanehe.

Batho ba amehang

FOP e ama batho ba ka tlase ho a le mong ho batho ba limilione tse 2 lefatšeng ka bophara (maemo a 2500 a fumanoeng ho latela Mokhatlo oa FOP France), ntle le khethollo ea bong kapa morabe. Fora, kajeno batho ba 89 ba tšoenyehile.

Matšoao a lefu lena a ntse a tsoela pele. 

Ho holofala ha menoana e meholo

Nakong ea tsoalo, bana ba tloaelehile ntle le ho ba teng ha congenital malformations ea menoana e meholo. Hangata, tsena li khutšoanyane ebile li khelohile ka hare ("false hallux valgus"), ka lebaka la ho se sebetse hantle ho amang metatarsal ea 1, lesapo le lelelele la leoto le hlalositsoeng le phalanx ea pele.

Phoso ena e ka amahanngoa le mono phalangism; ka linako tse ling, hape, sena ke pontšo feela ea lefu lena. 

Sututsa

Li-ossification tse latellanang tsa mesifa le li-tendon ka kakaretso li etsahala lilemong tse mashome a mabeli tsa pele tsa bophelo, ho latela tsoelo-pele ho tloha 'meleng o ka holimo ho ea tlase le ho tloha ka morao ho ea sefahlehong se ka pele. Li etelloa pele ke ponahalo ea ho ruruha ho thata, ho bohloko le ho ruruha. Maqhubu ana a ho ruruha a ka bakoa ke ho sithabela maikutlo (ho lemala kapa ho tšoha ka ho toba), ente e ka har'a mesifa, tšoaetso ea kokoana-hloko, ho otlolla mesifa, kapa esita le mokhathala kapa khatello ea kelello.

Li-anomalies tse ling

Lintho tse sa tloaelehang tsa masapo tse kang tlhahiso e sa tloaelehang ea masapo a mangole kapa ho kopana ha mokokotlo oa mokokotlo ka linako tse ling ho hlaha lilemong tsa pele.

Ho lahleheloa ke kutlo ho ka hlaha ho tloha bohlankaneng.

ho iphetola ha lintho

Ho thehoa ha "skeleton ea bobeli" butle-butle ho fokotsa ho tsamaea. Ho phaella moo, mathata a ho hema a ka 'na a hlaha ka lebaka la ho fokotseha ho tsoelang pele ha mesifa ea intercostal le ea morao le ho holofala. Ho lahleheloa ke ho tsamaea ho boetse ho eketsa kotsi ea liketsahalo tsa thromboembolic (phlebitis kapa pulmonary embolism).

Kakaretso ea nako ea bophelo e ka ba lilemo tse 40.

Hona joale, ha ho phekolo e fumanehang. Leha ho le joalo, ho sibolloa ha lefutso leo ho buuoang ka lona, ​​ho ile ha lumella tsoelo-pele e khōlō lipatlisisong. Bafuputsi ba ntse ba hlahloba ka ho khetheha tsela e tšepisang ea phekolo, e ka etsang hore ho khonehe ho khutsisa phetoho ea lefutso ka ho sebelisa mokhoa o sitisang oa RNA.

Kalafo ea matšoao

Nakong ea lihora tse 24 tsa pele tsa lefu la seoa, ho ka qalisoa kalafo ea tekanyo e phahameng ea corticosteroid. E tsamaisoa ka matsatsi a 4, e ka fana ka phomolo ho bakuli ka ho fokotsa ts'ebetso e matla ea ho ruruha le edema e bonoang methating ea pele ea lefu lena.

Ho kokobetsa bohloko le ho phomotsa mesifa ho ka thusa ka bohloko bo boholo.

Tšehetso ea mokuli

Lithuso tsohle tse hlokahalang tsa batho le botekgeniki li tlameha ho kengoa ts'ebetsong ho lumella batho ba nang le lefu la lejoe ho boloka boipuso le ho kopanya thuto ka nako eo ka botsebi.

Ka bomalimabe, ho thibela ho qala ha FOP ha ho khonehe. Empa mehato ea boits'ireletso e ka nkuoa ho liehisa nts'etsopele ea eona.

Prophylaxis ea ho khutlela morao

Thuto hammoho le liphetoho tsa tikoloho li lokela ho reretsoe ho thibela likotsi le ho oa. Ho roala helmete ho ka buelloa ho bana ba banyenyane. 

Batho ba nang le lefu la "stone man" le bona ba lokela ho qoba ho pepesehela tšoaetso ea kokoana-hloko 'me ba be hlokolosi haholo ka bohloeki ba bona ba meno, kaha tlhokomelo ea meno e hlaselang e ka baka ho ruruha.

Ts'ebetso efe kapa efe e hlaselang ea bongaka (biopsy, opereishene, joalo-joalo) e thibetsoe ntle le maemong a tlhokahalo e feteletseng. Liente tsa intramuscular (liente, joalo-joalo) le tsona ha li kenyelletsoe.

Phekolo ea 'mele

Ho bokella 'mele ka ho sisinyeha ha bonolo ho thusa ho loantša tahlehelo ea ho tsamaea. Haholo-holo, ho tsosolosa letamo la ho sesa ho ka ba molemo.

Mekhoa ea koetliso ea ho phefumoloha e boetse e thusa ho thibela ho senyeha ha phefumoloho.

Mehato e meng

• Tlhokomelo ea ho utloa
• Thibelo ea phlebitis (ho phahamisa maoto le matsoho ha u robetse, li-stockings, aspirin ea tekanyo e tlaase ka mor'a ho kena bonneng kapa bosaling)