{"orpha":90289,"name":"Localized scleroderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Localized fibrosing scleroderma"],"definition":"A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90289/","orphanet_url":"https://www.orpha.net/en/disease/detail/90289","names":{"fr":{"name":"Sclérodermie localisée","definition":"Maladie rare de la peau caractérisée par une atteinte inflammatoire et sclérosante de la peau et des tissus conjonctifs sous-jacents (tissu sous-cutané, fascia, muscles ou os). Elle donne lieu à des plaques ou des bandes de peau épaissie et enflammée affectant la tête, la région du cou, le tronc et les extrémités."},"de":{"name":"Sklerodermie, zirkumskripte","synonyms":["Sklerodermie, fibrosierende zirkumskripte"],"definition":"Eine seltene Hauterkrankung, die durch eine entzündliche und sklerosierende Erkrankung der Haut und des darunter liegenden Bindegewebes (Unterhautgewebe, Faszien, Muskeln oder Knochen) gekennzeichnet ist. Sie verursacht Hautflecken oder -bänder mit Entzündung und Verdickung der Haut, die den Kopf, den Hals, den Rumpf und die Extremitäten betreffen."},"es":{"name":"Esclerodermia localizada","synonyms":["Esclerodermia fibrosante localizada"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por un trastorno inflamatorio y esclerosante que afecta a la piel y a los tejidos conectivos subyacentes (tejido subcutáneo, fascia, músculo o hueso) que se manifiesta con parches o bandas cutáneas de piel inflamada y engrosada que afectan a la cabeza, a la región del cuello, al tronco y a las extremidades."},"it":{"name":"Sclerodermia localizzata","synonyms":["Morfea","Sclerodermia fibrosante localizzata"]},"nl":{"name":"Gelokaliseerde sclerodermie","synonyms":["Gelokaliseerde fibroserende sclerodermie"],"definition":"Een zeldzame aandoening van huid, gekenmerkt door inflammatoire en scleroserende ziekte die huid en onderliggende bindweefsels (onderhuids weefsel, fascie, spier of bot) aantast. Het veroorzaakt plekken of banden op de huid met inflammatie van huid en verdikkingen aan the hoofd, nek/hals, romp en extremiteiten."},"pt":{"name":"Esclerodermia localizada","definition":"Doença da pele rara caracterizada por alteração inflamatória e esclerosante que afeta a pele e os tecidos conjuntivos subjacentes (tecido subcutâneo, fáscia, músculo ou osso). Origina manchas cutâneas ou faixas de inflamação e espessura da pele que afetam a cabeça, região do pescoço, tronco e extremidades."},"pl":{"name":"Twardzina miejscowa","synonyms":["Localized fibrosing scleroderma"]},"cs":{"name":"Lokalizovaná forma sklerodermie","synonyms":["Lokalizovaná fibrotizující sklerodermie","Cirkumskriptní sklerodermie"]},"uk":{"name":"Локалізована склеродермія","synonyms":["Локалізована фіброзуюча склеродермія"],"definition":"A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities."},"zh":{"name":"局限性硬皮病","synonyms":["局限性纤维硬皮病"]},"tr":{"name":"Lokalize skleroderma","synonyms":["Lokalize fibrozan skleroderma"]}},"xrefs":[{"source":"ICD-10","code":"L94.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB61.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1430740369"},{"source":"MONDO","code":"0019562","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036420","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7058","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":801,"name":"Scleroderma","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-12-08","source":"25672301[PMID]_29687475[PMID]_29875934[PMID]_28271552[PMID]","terms":[{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031359","label":"Cutaneous sclerotic plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030053","label":"Stiff skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033127","label":"Abnormality of the musculoskeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000177","label":"Abnormality of upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100537","label":"Fasciitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011331","label":"Hemifacial atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100876","label":"Infra-orbital crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009019","label":"Progressive loss of facial adipose tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100899","label":"Sclerosis of finger phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006336","label":"Short dental roots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011138","label":"Abnormality of skin adnexa morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}