{"orpha":166113,"name":"Bazex syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acrokeratosis of Bazex","Acrokeratosis paraneoplastica","Acrokeratosis paraneoplastica of Bazex"],"definition":"A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166113/","orphanet_url":"https://www.orpha.net/en/disease/detail/166113","names":{"fr":{"name":"Syndrome de Bazex","synonyms":["Acrokératose de Bazex","Acrokératose paranéoplasique","Acrokératose paranéoplasique de Bazex"],"definition":"Syndrome paranéoplasique rare caractérisé par une éruption psoriasiforme acrale touchant typiquement les oreilles, le nez, les doigts et les ongles des mains et des pieds, mais pouvant également s'étendre aux joues, aux coudes, aux genoux et au tronc, et être parfois associée à un prurit. Dans la majorité des cas, les lésions cutanées précèdent les symptômes/le diagnostic d'une tumeur maligne (généralement des voies aérodigestives supérieures mais aussi d'autres tumeurs malignes à cellules squameuses)."},"de":{"name":"Bazex-Syndrom","synonyms":["Acrokeratosis paraneoplastica von Bazex","Akrokeratose Typ Bazex","Akrokeratose, paraneoplastische"],"definition":"Ein seltenes paraneoplastisches Syndrom, das durch akrale psoriasiforme Läsionen gekennzeichnet ist, die typischerweise die Ohren, die Nase, die Finger und die Nägel der Hände und Füße betreffen, sich aber auch auf die Wangen, Ellenbogen, Knie und den Rumpf ausdehnen können und gelegentlich mit Juckreiz einhergehen. In den meisten Fällen treten die Hautläsionen vor den Symptomen/der Diagnose einer Malignität auf (in der Regel betrifft dies den oberen Aerodigestivtrakt, aber auch andere Plattenepithelkarzinome)."},"es":{"name":"Síndrome de Bazex","synonyms":["Acroqueratosis de Bazex","Acroqueratosis paraneoplásica","Acroqueratosis paraneoplásica de Bazex"],"definition":"Es un síndrome paraneoplásico poco frecuente caracterizado por lesiones psoriasiformes acrales que, por lo general, afectan a las orejas, la nariz, los dedos y las uñas de las manos y de los pies, pero que también pueden extenderse a las mejillas, a los codos, a las rodillas y al tronco, con prurito ocasional. En la mayoría de los casos, las lesiones cutáneas preceden a los síntomas/diagnóstico de malignidad (que generalmente afecta al tracto aerodigestivo superior, aunque también incluye otras neoplasias malignas de células escamosas)."},"it":{"name":"Sindrome di Bazex","synonyms":["Acrocheratosi di Bazex","Acrocheratosi paraneoplastica"]},"nl":{"name":"Syndroom van Bazex","synonyms":["Acrokeratosis paraneoplastica","Acrokeratosis paraneoplastica van Bazex","Acrokeratose van Bazex"],"definition":"Een zeldzaam paraneoplastisch syndroom, gekenmerkt door acrale psoriasiforme laesies die doorgaans oren, neus, vingers en nagels van handen en voeten treffen, maar ook kunnen uitbreiden naar wangen, ellebogen, knieën en romp, met occasionele pruritus. In de meerderheid van de gevallen gaan de cutane laesies vooraf aan de symptomen/diagnose van maligniteit (doorgaans met betrokkenheid van het bovenste gedeelte van luchtwegen en spijsverteringskanaal, maar ook andere maligniteiten van plaveiselcellen)."},"pt":{"name":"Síndrome Bazex","definition":"Síndrome paraneoplásica rara caracterizada por lesões psoriasiformes acrais tipicamente envolvendo orelhas, nariz, dedos e unhas das mãos e pés, no entanto pode existir envolvimento das bochechas, cotovelos, joelhos e tronco, com prurido ocasional. Na maioria dos casos, as lesões cutâneas precedem os sintomas/diagnóstico de malignidade (geralmente envolvendo o trato aerodigestivo superior, mas também outras malignidades de células escamosas)."},"pl":{"name":"Zespół Bazex","synonyms":["Akrokeratoza Bazex","Akrokeratoza paraneoplastyczna","Akrokeratoza paraneoplastyczna Bazex"]},"cs":{"name":"Bazexův syndrom","synonyms":["Bazexova akrokeratóza","Acrokeratosis paraneoplastica Bazex"]},"uk":{"name":"Синдром Базекса","synonyms":["Акрокератоз Базекс","Паранеопластичний акрокератоз","Паранеопластичний акрокератоз Базекса"],"definition":"A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies)."},"zh":{"name":"Bazex 综合征","synonyms":["Bazex型副肿瘤性肢端角化症"],"definition":"Bazex综合征是一种以肢端银屑病样病损为特征的罕见副肿瘤综合征。"},"tr":{"name":"Bazex sendromu","synonyms":["Bazex'in akrokeratozu","Akrokeratoz paraneoplastika","Bazex'in akrokeratoz paraneoplastisi"]}},"xrefs":[{"source":"ICD-10","code":"L44.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EL10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"783577196"},{"source":"UMLS","code":"C0406355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065247","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]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":145.0,"area":"Worldwide","status":"Validated","source":"18775590[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18775590[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-19","source":"26765420[PMID]_27721759[PMID]_24346922[PMID]","terms":[{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011367","label":"Yellow nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100816","label":"Lip hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012034","label":"Liposarcoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030078","label":"Lung adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very rare (<4-1%)","criteria":null}]}}