{"orpha":163931,"name":"Acrodermatitis continua of Hallopeau","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163931/","orphanet_url":"https://www.orpha.net/en/disease/detail/163931","names":{"fr":{"name":"Acrodermatite continue de Hallopeau","definition":"Maladie génétique de l'épiderme rare, chronique et récurrente à progression lente, caractérisée par de petites éruptions à type de pustules stériles localisées sur les ongles et la peau environnante des doigts et/ou des orteils, qui confluent et éclatent, laissant une peau atrophique et érythémateuse où de nouvelles pustules se développent. Une onychodystrophie est fréquemment associée, ainsi qu'une anonychie et une ostéolyse dans les cas sévères. L'atteinte peut s'étendre localement aux mains, aux avant-bras et/ou aux pieds, et une atteinte des muqueuses (par exemple, conjonctive, langue, urètre) peut être observée."},"de":{"name":"Acrodermatitis continua suppurativa Hallopeau","definition":"Eine seltene, genetisch bedingte, chronisch-rezidivierende und langsam fortschreitende Epidermiserkrankung. Sie ist gekennzeichnet durch kleine, sterile, pustulöse Ausbrüche an den Nägeln und der sie umgebende Haut von Finger und/oder Zehen, die zusammenwachsen, aufplatzen und dann erythematöse, atrophische Haut hinterlassen, auf der sich neue Pusteln entwickeln. Häufig tritt eine Onychodystrophie auf, und in schweren Fällen wird über Anonychie und Osteolyse berichtet. Es kann zu einer lokalen Ausbreitung (bis hin zu Händen, Unterarmen und/oder Füßen) und zum Befall von Schleimhautoberflächen (z. B. Bindehaut, Zunge, Harnröhre) kommen."},"es":{"name":"Acrodermatitis continua supurativa de Hallopeau","definition":"Es una enfermedad epidérmica, lentamente progresiva, recurrente, crónica, de origen genético y poco frecuente, caracterizada por pequeñas erupciones pustulares estériles que afectan a las uñas y a la piel circundante de los dedos de las manos y los pies, confluyendo y erupcionando para lugar a una piel eritematosa y atrófica dónde se desarrollarán nuevas pústulas. La enfermedad se asocia con frecuencia a onicodistrofia y en casos graves se ha descrito anoniquia y osteólisis. Es posible observar una expansión local (hasta afectar las manos, los antebrazos y/o los pies), así como afectación de las superficies mucosas (p. ej. de la conjuntiva, la lengua y la uretra)."},"it":{"name":"Acrodermatite continua di Hallopeau","definition":"È una malattia cronica ricorrente rara dell'epidermide, di origine genetica, a progressione lenta, caratterizzata dall'eruzione di piccole pustole sterili, che interessano le unghie e la cute circostante le dita delle mani e/o dei piedi, che confluiscono e scoppiano, lasciando aree di cute atrofica ed eritematosa, sulla quale si sviluppano nuove pustole. Spesso si associa ad onicodistrofia e, nei casi più gravi, ad anonichia ed osteolisi. Può associarsi ad espansione locale (interessamento delle mani, degli avambracci e/o dei piedi) e può coinvolgere le mucose (ad es. congiuntive, lingua, uretra)."},"nl":{"name":"Acrodermatitis continua van Hallopeau","definition":"Een zeldzame, genetische, chronische, recurrente, traag progressieve, epidermale ziekte gekarakteriseerd door kleine, steriele, pustuleuze huiduitslag aan de nagels en omringende huid van de vingers en/of tenen, waarvan de puisten samenvloeien en barsten, met als gevolg een erythemateuze, atrofische huid waarop nieuwe puisten ontwikkelen. Onychodystrofie is vaak geassocieerd en in ernstige gevallen werden anonychie en osteolyse gerapporteerd. Lokale expansie (met betrokkenheid van handen, onderarmen en/of voeten) en betrokkenheid van slijmvliesoppervlakken (e.g. bindvlies, tong, urethra) wordt mogelijk waargenomen."},"pt":{"name":"Acrodermatite contínua de Hallopeau","definition":"Doença epidérmica rara, genética, crónica, recorrente, lentamente progressiva, caracterizada por pequenas erupções pustulosas estéreis, envolvendo as unhas e a pele circundante dos dedos das mãos e/ou dos pés, que coalescem e rompem, deixando a pele eritematosa e atrófica onde novas pústulas se desenvolvem. A onicodistrofia está frequentemente associada e anoníquia e osteólise são relatadas em casos graves. Pode ser observada expansão local (com envolvimento das mãos, antebraços e/ou pés) e envolvimento de superfícies mucosas (por exemplo, conjuntiva, língua, uretra)."},"pl":{"name":"Acrodermatitis continua suppurativa of Hallopeau (Krostowe zapalenie skóry palców)"},"cs":{"name":"Acrodermatitis suppurativa Hallopeau","synonyms":["Hallopeauova nemoc"]},"uk":{"name":"Стійкий акродерматит Аллопо","definition":"A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed."},"zh":{"name":"拇趾连续性肢端皮炎","definition":"一种罕见的遗传性慢性反复发作的缓慢进行性表皮疾病，其特征是小且无菌的脓疱疹，累及指甲和手指和/或脚趾周围皮肤，这些皮肤融合并破裂，留下红斑萎缩样皮肤，随后形成新的脓疱。甲骨营养不良是常见并发症，重症病例还会出现无甲症和骨质溶解。可观察到局部扩张(累及手、前臂和/或脚)和粘膜表面受累(如结膜、舌、尿道)。"},"tr":{"name":"Hallopeau'nun akrodermatit devamı"}},"xrefs":[{"source":"ICD-10","code":"L40.2","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EA90.41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1359173639"},{"source":"UMLS","code":"C0392439","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"AP1S3","name":"adaptor related protein complex 1 subunit sigma 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24791904[PMID]","hgnc":"18971","ensembl":"ENSG00000152056","omim":"615781","loci":["2q36.1"]},{"symbol":"IL36RN","name":"interleukin 36 receptor antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23303454[PMID]","hgnc":"15561","ensembl":"ENSG00000136695","omim":"605507","loci":["2q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Worldwide","status":"Validated","source":"34532894[PMID]_ORPHANET"}],"phenotypes":null}