{"orpha":352763,"name":"Scleredema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Buschke scleredema"],"definition":"A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352763/","orphanet_url":"https://www.orpha.net/en/disease/detail/352763","names":{"fr":{"name":"Scléroedème","synonyms":["Scléroedème de Buschke"],"definition":"Maladie cutanée acquise rare caractérisée par un dépôt excessif de mucine et un épaississement des faisceaux de collagène dans le derme, entraînant une induration cutanée, ne prenant pas le godet, de la peau du cou, s'étendant aux épaules et à la partie supérieure du tronc, mais épargnant les mains et les pieds. Selon l'association avec des antécédents ou des maladies sous-jacentes, trois types peuvent être distingués : le type 1 suit généralement une infection fébrile, le type 2 est associé à une paraprotéinémie et le type 3 survient chez les patients atteints de diabète sucré. Dans les types 2 et 3 en particulier, une atteinte extracutanée peut être présente. D'autres conditions potentiellement associées incluent une variété d'endocrinopathies, de maladies systémiques et de tumeurs."},"de":{"name":"Sklerödem","synonyms":["Sklerödem Buschke"],"definition":"Eine seltene erworbene Hauterkrankung, die durch übermäßige Muzinablagerungen und verdickte Kollagenbündel in der Dermis gekennzeichnet ist und zu holzigen, nicht löchrigen Verhärtungen der Haut am Hals führt, die sich auf die Schultern und den oberen Rumpf ausbreiten, aber Hände und Füße verschonen. Je nach Zusammenhang mit vorangegangenen oder zugrundeliegenden Erkrankungen lassen sich drei Typen unterscheiden: Typ 1 tritt in der Regel nach einer fieberhaften Infektion auf, Typ 2 ist mit einer Paraproteinämie verbunden, und Typ 3 tritt bei Patienten mit Diabetes mellitus auf. Insbesondere bei den Typen 2 und 3 kann es zu einer extrakutanen Beteiligung kommen. Zu den anderen potenziell assoziierten Erkrankungen gehören eine Reihe von Endokrinopathien, systemischen Erkrankungen und Neoplasien."},"es":{"name":"Escleredema","synonyms":["Escleredema de Buschke"],"definition":"Es una enfermedad cutánea adquirida poco frecuente caracterizada por un exceso de depósitos de mucina y haces de colágeno engrosados en la dermis, resultando en una induración leñosa y no punteada en la piel del cuello, que se extiende a los hombros y la parte superior del tronco, aunque sin afectar a las manos y los pies. En función de la asociación a otros trastornos previos o subyacentes, se pueden distinguir tres tipos: el tipo 1, por lo general, precedida por una infección febril, el tipo 2 está asociado a paraproteinemia y el tipo 3 ocurre en pacientes con diabetes mellitus. Especialmente en los tipos 2 y 3, se puede presentar afectación extracutánea. Otros trastornos potencialmente asociados incluyen una variedad de endocrinopatías, enfermedades sistémicas y neoplasias."},"it":{"name":"Scleredema","synonyms":["Scleredema di Buschke"],"definition":"Si tratta di una malattia acquisita rara della cute, caratterizzata depositi eccessivi di mucina e da fasci di collagene ispessiti nel derma, che causano un ispessimento dall'aspetto legnoso della cute del collo senza formazione di fossette, che si diffonde alle spalle e alla parte superiore del tronco, risparmiando le mani e i piedi. In base alla presenza di malattie preesistenti o concomitanti, si distinguono tre tipi della malattia: il tipo 1, che di solito segue un'infezione febbrile; il tipo 2, che si associa a paraproteinemia; il tipo 3 che colpisce i pazienti affetti da diabete mellito. Il coinvolgimento extracutaneo è più comune nei tipi 2 e 3. La malattia può associarsi a diverse endocrinopatie, malattie sistemiche e neoplasie."},"nl":{"name":"Scleroedeem","synonyms":["Scleroedeem van Buschke"],"definition":"Een zeldzame verworven aandoening van huid, gekarakteriseerd door excessieve depositie van mucine en verdikte collageenbundels in dermis, wat resulteert in houtachtige, niet-wegdrukbare induratie van huid van hals, met verspreiding naar schouder en bovenste deel van romp, maar niet naar handen en voeten. Naargelang associatie met voorafgaande of onderliggende aandoeningen kunnen drie types onderscheiden worden: type 1 volgt meestal na een febriele infectie, type 2 is geassocieerd met paraproteïnemie, en type 3 treedt op bij patiënten met diabetes mellitus. Vooral bij types 2 en 3 kan extracutane betrokkenheid aanwezig zijn. Overige aandoeningen die mogelijk geassocieerd zijn, zijn onder meer verschillende endocrinopathieën, systemische ziekten, en neoplasma's."},"pt":{"name":"Escleredema"},"pl":{"name":"Twardzina obrzękowa (scleredema)","synonyms":["Twardzina obrzękowa Buschkego"]},"cs":{"name":"Skleredém","synonyms":["Scleredema adultorum Buschke"]},"uk":{"name":"Склередема","synonyms":["Склеродермія Бушке"],"definition":"A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms."},"zh":{"name":"硬化病","synonyms":["Buschke硬肿病"]},"tr":{"name":"Sklerödem","synonyms":["Buschke sklerödem"]}},"xrefs":[{"source":"ICD-10","code":"M34.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EE7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1549425684"},{"source":"MONDO","code":"0006606","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"6606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036413","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5975","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10055953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":90077,"name":"Other acquired skin disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}