{"orpha":221039,"name":"Hereditary sclerosing poikiloderma, Weary type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221039/","orphanet_url":"https://www.orpha.net/en/disease/detail/221039","names":{"fr":{"name":"Poïkilodermie sclérosante héréditaire de Weary","definition":"Maladie dermatologique rare d'origine génétique caractérisée par une poïkilodermie généralisée avec une prédilection marquée dans les zones de flexion et sur les surfaces d'extension, une sclérose affectant les paumes et la plante des pieds, et des bandes hyperkératosiques et scléreuses linéaires et réticulées dans les aisselles et les fosses antécubitales et poplitées. Des calcifications sous-cutanées, un hippocratisme digital, le phénomène de Raynaud et des malformations cardiaques (telle qu'une sténose aortique sévère) ont également été rapportés."},"de":{"name":"Poikilodermie, hereditäre sklerosierende, Typ Weary","definition":"Eine seltene genetisch bedingte Hauterkrankung, die durch eine generalisierte Poikilodermie mit ausgeprägter Akzentuierung in den Beuge- und Streckregionen, Sklerose der Handflächen und Fußsohlen sowie lineare und netzartige hyperkeratotische und sklerotische Bänder in der Achselhöhle und den antecubitalen und poplitealen Fossae gekennzeichnet ist. Auch subkutane Verkalkung, Trommelschlägelfinger, das Raynaud-Phänomen und Herzanomalien (z. B. eine schwere Aortenstenose) wurden berichtet."},"es":{"name":"Poiquilodermia esclerosante hereditaria tipo Weary","definition":"Es una enfermedad cutánea de base genética poco frecuente caracterizada por poiquilodermia generalizada con una marcada acentuación en las áreas de flexión y en las superficies extensoras, esclerosis palmoplantar, bandas hiperqueratósicas y esclerosis lineales y reticuladas en las axilas y en las fosas antecubitales y poplíteas. También se ha descrito calcificación subcutánea, dedos hipocráticos, fenómeno de Raynaud y anomalías cardíacas (como estenosis aórtica grave)."},"it":{"name":"Poichilodermia sclerosante ereditaria, tipo Weary","definition":"Si tratta di una malattia genetica rara della cute, caratterizzata da poichilodermia generalizzata, che risulta più marcata nelle regioni flessorie e sulle superfici estensorie, sclerosi del palmo delle mani e della pianta dei piedi, e bande ipercheratosiche e sclerotiche lineari e reticolate sulle ascelle e nelle fosse antecubitali e poplitee. I pazienti possono presentare anche calcificazioni sottocutanee, ippocratismo digitale, fenomeno di Raynaud e cardiopatie (stenosi grave dell'aorta)."},"nl":{"name":"Erfelijke scleroserende poikilodermie, Weary-type","definition":"Een zeldzame, genetische aandoening van huid, gekarakteriseerd door gegeneraliseerde poikilodermie met opmerkelijke accentuering op buig- en strekzijden, sclerose van handpalmen en voetzolen, en lineaire en reticulaire hyperkeratotische en sclerotische banden in oksel, ellebooggroeve en knieholte. Subcutane calcificatie, trommelstokvingers, fenomeen van Raynaud, en hartanomalieën (zoals ernstige stenose van aorta) werden ook reeds gerapporteerd."},"pt":{"name":"Poiquilodermia esclerosante hereditária, tipo Weary"},"pl":{"name":"Dziedziczna poikilodermia stwardniająca, typ Weary'ego"},"cs":{"name":"Hereditární sklerozující poikilodermie, Wearyho typ"},"uk":{"name":"Спадкова склерозуюча пойкилодермія, тип Вері","definition":"A rare genetic skin disease characterized by generalized poikiloderma with marked accentuation in flexural regions and on extensor surfaces, sclerosis of palms and soles, and linear and reticulated hyperkeratotic and sclerotic bands in the axilla and the antecubital and popliteal fossae. Subcutaneous calcification, finger clubbing, Raynaud phenomenon, and cardiac abnormalities (such as severe aortic stenosis) have also been reported."},"zh":{"name":"Weary 型遗传性硬化性皮肤异色病"},"tr":{"name":"Kalıtsal sklerozan poikiloderma, Weary tipi"}},"xrefs":[{"source":"OMIM","code":"173700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1538273632"},{"source":"MONDO","code":"0008261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"10233244[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10233244[PMID]"}],"phenotypes":null}