{"orpha":221046,"name":"Poikiloderma with neutropenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Poikiloderma with neutropenia, Clericuzio type"],"definition":"Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221046/","orphanet_url":"https://www.orpha.net/en/disease/detail/221046","names":{"fr":{"name":"Poïkilodermie avec neutropénie","synonyms":["Poïkilodermie avec neutropénie type Clericuzio"],"definition":"Poïkilodermie héréditaire rare, d'origine génétique, caractérisée par une poïkilodermie à début précoce (affectant généralement en premier lieu les extrémités, avec une progression centripète et finir par toucher le tronc, le visage et les oreilles) associée à une neutropénie chronique, des infections récurrentes, une pachyonychie et une kératodermie palmoplantaire. Un retard de croissance et/ou de développement et une hépatomégalie et/ou splénomégalie ont également été rapportés."},"de":{"name":"Poikilodermie mit Neutropenie","synonyms":["Poikilodermie mit Neutropenie vom Typ Clericuzio"]},"es":{"name":"Poiquilodermia con neutropenia","synonyms":["Poiquilodermia con neutropenia tipo Clericuzio"],"definition":"La poiquilodermia con neutropenia, es un trastorno hereditario poco frecuente, caracterizado por poiquilodermia de inicio temprano (que, por lo general, comienza en las extremidades y progresa de forma centrípeta, afectando eventualmente al tronco, la cara y las orejas) asociado a neutropenia crónica, infecciones recurrentes, paquioniquia y queratodermia palmoplantar. Otras características adicionales descritas son retraso del crecimiento y/o del desarrollo, así como hepato- y/o esplenomegalia."},"it":{"name":"Poichilodermia associata a neutropenia","synonyms":["Poichilodermia associata a neutropenia, tipo Clericuzio"],"definition":"La poichilodermia associata a neutropenia è una poichilodermia ereditaria genetica rara, caratterizzata da poichilodermia ad esordio precoce (che di solito esordisce sugli arti, progredisce in maniera centripeta e, infine, interessa il tronco, il viso e le orecchie), associata a neutropenia cronica, infezioni ricorrenti, pachionichia e cheratoderma palmoplantare. Altri segni clinici sono il ritardo della crescita e/o dello sviluppo e l'epato- e/o la splenomegalia."},"nl":{"name":"Poikilodermie met neutropenie","synonyms":["Poikilodermie met neutropenie, Clericuzio-type"],"definition":"Poikilodermie met neutropenie is een zeldzame, genetische, erfelijke poikilodermie die geassocieerd wordt door vroeg aanvangende poikilodermie (die doorgaans begint in de ledematen, centripetaal evolueert en uiteindelijk de romp, het gelaat en de oren treft), geassocieerd met chronische neutropenie, recurrente infecties, pachyonychia en palmoplantaire keratodermie. Groei- en/of ontwikkelingsachterstand en hepato- en/of splenomegalie zijn bijkomend gerapporteerde kenmerken."},"pt":{"name":"Poiquilodermia com neutropenia"},"pl":{"name":"Poikilodermia z neutropenią","synonyms":["Poikilodermia z neutropenią, typ Clericuzio"],"definition":"*Poikiloderma z neutropenią jest rzadkim, dziedzicznym schorzeniem, które charakteryzuje się siateczkowatą pigmentacją skóry(poikilodermią) o wczesnym początku (która typowo rozpoczyna się na kończynach, postępuje dośrodkowo i ostatecznie obejmuje tułów, twarz i uszy) i której towarzyszy przewlekła neutropenia, nawracające infekcje, zgrubienie paznokci (pachyonychia) i rogowacenie dłoniowo-podeszwowe. Dodatkowo zgłaszano opóźnienie wzrastania i/lub rozwoju oraz powiększenie wątroby i/lub śledziony."},"cs":{"name":"Poikilodermie s neutropenií","synonyms":["Poikilodermie s neutropenií, typ Clericuziové"]},"uk":{"name":"Пойкилодермія з нейтропенією","synonyms":["Пойкилодермія з нейтропенією, тип Clericuzio"],"definition":"Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features."},"zh":{"name":"皮肤异色症伴中性粒细胞减少","synonyms":["Clericuzio型皮肤异色症伴中性粒细胞减少"],"definition":"皮肤异色症伴中性粒细胞减少是一种罕见的遗传性皮肤异色症，其特征是早发性皮肤异色症（通常始于四肢，向心发展，最终累及躯干、面部和耳朵），与慢性中性粒细胞减少症、复发性感染、厚甲和掌跖角化病有关。其他曾报道的特征包括生长和/或发育迟缓，肝和/或脾肿大。"},"tr":{"name":"Nötropeni ile seyreden poikiloderma","synonyms":["Nötropenili Poikiloderma, Clericuzio tipi"]}},"xrefs":[{"source":"OMIM","code":"604173","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1012287760"},{"source":"MONDO","code":"0011405","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565820","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858723","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4085","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]},{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"USB1","name":"U6 snRNA biogenesis phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20004881[PMID]_20503306[PMID]","hgnc":"25792","ensembl":"ENSG00000103005","omim":"613276","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"18925663[PMID]_20004881[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}