{"orpha":1657,"name":"Dermatoosteolysis, Kirghizian type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1657/","orphanet_url":"https://www.orpha.net/en/disease/detail/1657","names":{"fr":{"name":"Dermato-ostéolyse type Kirghize","definition":"Maladie génétique rare caractérisée par l'apparition pendant la petite enfance d'ulcérations cutanées récurrentes, d'arthralgies, d'une fièvre, d'une ostéolyse péri-articulaire créant un trajet fistuleux, d'une oligodontie, d'une dystrophie unguéale et d'une kératite. La maladie est spontanément résolutive dans l'enfance, mais entraîne d'importantes cicatrices, des arthroses chroniques, un aspect pseudoacromégalique des mains et des pieds, une scoliose secondaire et une déficience visuelle. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Dermato-Osteolyse, kirgisischer Typ","definition":"Eine seltene genetische Erkrankung, die im Kindesalter mit rezidivierenden Hautulzerationen, Arthralgien, Fieber, periartikulärer fistulöser Osteolyse, Oligodontie, Nageldystrophie und Keratitis beginnt. Die Krankheit nimmt im Kindesalter einen selbstlimitierenden Verlauf, führt aber zu schwerer Vernarbung, chronischen Arthrosen, pseudoakromegalem Aussehen von Händen und Füßen, sekundärer Skoliose und Sehbehinderung. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Dermato-osteólisis tipo Kirghize","definition":"Es una enfermedad de base genética poco frecuente caracterizada por el inicio en la lactancia de úlceras cutáneas recurrentes, artralgias, fiebre, osteólisis fistulosa periarticular, oligodoncia, distrofia ungueal y queratitis. La enfermedad sigue un curso autolimitado en la infancia, aunque provoca una grave cicatrización, artrosis crónica, apariencia pseudoacromegálica de las manos y los pies, escoliosis secundaria y disfunción visual. No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Dermato-osteolisi, tipo Kirghizi","definition":"Si tratta di una malattia genetica rara, che esordisce nella prima infanzia con ulcere cutanee ricorrenti, artralgie, febbre, osteolisi fistolosa periarticolare, oligodontia, distrofia ungueale e cheratite. La malattia ha un decorso autolimitante durante l'infanzia, ma si associa a cicatrici importanti, artrosi cronica, aspetto pseudoacromegalico delle mani e dei piedi, scoliosi secondaria e deficit visivi. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Dermato-osteolyse, Kirgizisch type","definition":"Een zeldzame, genetische aandoening, gekenmerkt door infantiele aanvang van recidiverende ulceraties van huid, artralgie, koorts, periarticulaire fistuleuze osteolyse, oligodontie, nageldystrofie, en keratitis. De ziekte kent een zelfbeperkend verloop in de kindertijd, maar resulteert in ernstige littekenvorming, chronische gewrichtsaandoeningen, handen en voeten kenmerkend voor acromegalie, secundaire scoliose, en verlies van gezichtsvermogen. Sinds 1983 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Dermatosteolíse, tipo Kirghizian"},"pl":{"name":"Dermatoosteoliza typu Kirghiziana"},"cs":{"name":"Dermatoosteolýza, kyrgyzský typ"},"uk":{"name":"Дерматоостеоліз, киргизький тип","definition":"A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983."},"zh":{"name":"皮肤骨质溶解，Kirghizian型"},"tr":{"name":"Dermatoosteoliz, Kırgız tipi"}},"xrefs":[{"source":"OMIM","code":"221810","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2019080941"},{"source":"MONDO","code":"0009095","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857301","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1814","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6224420[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6224420[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null}]}}