{"orpha":801,"name":"Scleroderma","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-801/","orphanet_url":"https://www.orpha.net/en/disease/detail/801","names":{"fr":{"name":"Sclérodermie","definition":"La sclérodermie est une maladie auto-immune rare du tissu conjonctif caractérisée par un durcissement anormal de la peau et, parfois, d'autres organes. Elle est classée en deux formes : la sclérodermie localisée et la sclérodermie systémique (ScS), la dernière comprenant la sclérodermie systémique cutanée diffuse (ScScd), la sclérodermie systémique cutanée limitée (ScScl) et la sclérose systémique limitée (ScSl)."},"de":{"name":"Sklerodermie","definition":"Die Sklerodermie ist eine seltene autoimmune Bindergewebserkrankung/Kollagenose mit abnormer Verhärtung der Haut und manchmal auch anderer Organe. Zwei Hauptformen werden unterschieden: (i) Zirkumskripte Sklerodermie und (ii) Systemische Sklerose (SSc). Letztere hat drei Untertypen: diffuse kutane SSc (dcSSc), limitierte kutane SSC (lcSSC) und limitierte SSc (s. diese Termini)."},"es":{"name":"Esclerodermia","definition":"La esclerodermia es un trastorno autoinmune poco frecuente del tejido conectivo, caracterizado por un endurecimiento anormal de la piel y, en ocasiones, también de otros órganos. Se clasifica en dos formas principales: la esclerodermia localizada y la esclerosis sistémica (SSc), distinguiéndose en esta forma tres subtipos distintos: la esclerosis sistémica cutánea difusa (dcSSc), la esclerosis sistémica cutánea limitada (lcSSc) y la esclerosis sistémica limitada (lSSc) (consulte estos términos)."},"it":{"name":"Sclerodermia","definition":"La sclerodermia è una malattia rara autoimmune del tessuto connettivo, che presenta un caratteristico ispessimento anomalo della cute e, in alcuni casi, anche di altri organi. Si possono distinguere due forme principali: la sclerodermia localizzata e la sclerosi sistemica (SSc). Quest'ultima comprende la sclerosi sistemica cutanea diffusa (dcSSc), la sclerosi sistemica cutanea limitata (lcSSc) e la sclerosi sistemica limitata (lSSc)."},"nl":{"name":"Sclerodermie","definition":"Sclerodermie is een zeldzame auto-immune bindweefselstoornis die gekarakteriseerd wordt door abnormaal verharden van de huid en soms ook andere organen. Er bestaan twee voorname vormen van de ziekte, namelijk gelokaliseerde sclerodermie en systemische sclerose (SSc), waarvan de laatste drie subtypes omvat: diffuse cutane SSc (dcSSc), beperkte cutane SSc (lcSSc) en beperkte SSc (lSSc) (zie deze termen)."},"pt":{"name":"Esclerodermia","definition":"A esclerodermia é uma doença autoimune do tecido conjuntivo, rara, caracterizada por endurecimento anormal da pele e, às vezes, de outros órgãos. É classificada em duas formas principais: esclerodermia localizada e esclerose sistémica (SSc), esta última composta por três subgrupos; SSc cutânea difusa (dcSSc), SSc cutânea limitada (lcSSc) e SSc limitada (lSSc) (ver estes termos)."},"pl":{"name":"Twardzina","definition":"Twardzina to rzadka autoimmunologiczna choroba tkanki łącznej, która charakteryzuje się nieprawidłowym stwardnieniem skóry i niekiedy innych narządów. Dzieli się ją na dwie główne postacie: twardzinę miejscową i układową, przy czym ta druga obejmuje trzy podtypy: rozsiany skórny, ograniczony skórny i ograniczony układowy."},"cs":{"name":"Sklerodermie"},"uk":{"name":"Склеродермія","definition":"Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)."},"zh":{"name":"硬皮病"},"tr":{"name":"Skleroderma"}},"xrefs":[{"source":"MONDO","code":"0019340","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19340","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011644","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039710","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":290836,"name":"Systemic disease with skin involvement","classifications":[187]}],"children":[{"orpha":90289,"name":"Localized scleroderma","type":"Disease"},{"orpha":90291,"name":"Systemic sclerosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.41,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":42.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Australia","status":"Validated","source":"11456035[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":23.0,"area":"Australia","status":"Validated","source":"11456035[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":469.0,"area":"Specific population","status":"Validated","source":"8702445[PMID]"}],"phenotypes":null}