{"orpha":840,"name":"Syringocystadenoma papilliferum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fistulous vegetative verrucous hydradenoma","Naevus syringocystadenomatosus papilliferus","Papillary syringocystadenoma","SCAP","Syringadenoma papilliferum"],"definition":"A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-840/","orphanet_url":"https://www.orpha.net/en/disease/detail/840","names":{"fr":{"name":"Syringocystadénome papillifère","synonyms":["Hydradénome verruqueux fistulo-végétant","SCAP","Syringocystadenome papillaire"],"definition":"Tumeur annexielle bénigne et rare des glandes sudoripares apocrines ou des glandes sudoripares eccrines qui se caractérise histologiquement par des invaginations kystiques, papillaires et canalaires dans le derme, tapissées d'un épithélium cuboïde externe à double couche et d'un épithélium cylindrique haut luminal et reliées à l'épiderme. Des capillaires dilatés et un infiltrat dense de plasmocytes sont caractéristiques. Cliniquement, les lésions sont asymptomatiques et présentent un aspect hétérogène et non distinctif, des papules ou des plaques de couleur chair ou rose, se manifestant le plus souvent dans la région de la tête et du cou."},"de":{"name":"Syringocystadenoma papilliferum","synonyms":["Fistulöses vegetatives verruköses Hidradenom","Hidradenoma verrucosum fistulovegetans","Naevus syringocystadenomatosus papilliferus","SCAP","Schweißdrüsenadenom, papilläres","Syringadenom, papilläres"],"definition":"Eine seltene gutartige Neoplasie der Adnexe, die von den apokrinen oder ekkrinen Schweißdrüsen ausgeht und histologisch durch zystische, papilläre und duktale Einstülpungen in die Dermis gekennzeichnet ist, die von doppellagigem äußerem quaderförmigem und luminalem hochsäuligem Epithel ausgekleidet und mit der Epidermis verbunden sind. Charakteristisch sind dilatierte Kapillaren und ein dichtes Infiltrat von Plasmazellen. Klinisch sind die Läsionen asymptomatisch und haben ein heterogenes, undifferenziertes Erscheinungsbild, das von hautfarbenen bis zu rosafarbenen Papeln oder Plaques reicht und am häufigsten im Kopf- und Halsbereich auftritt."},"es":{"name":"Siringocistoadenoma papilífero","synonyms":["Hidradenoma verrugoso fístulo-vegetativo","Nevo siringocistoadenomatoso papilífero","SCAP","Siringoadenoma papilífero","Siringocistoadenoma papilar"],"definition":"Es una neoplasia anexial no maligna poco frecuente que se origina en las glándulas sudoríparas apocrinas o ecrinas. Histológicamente, está caracterizado por invaginaciones quísticas, papilares y ductales en la dermis, revestidas por una doble capa, una externa de epitelio cuboidal y una luminal de epitelio columnar conectado a la epidermis. La presencia de capilares dilatados y de un infiltrado denso de células plasmáticas es característico. Clínicamente, las lesiones son asintomáticas, con un aspecto heterogéneo y no característico, compuestas por pápulas o placas rosáceas o del color de la piel, que se presentan con mayor frecuencia en el área de la cabeza y el cuello."},"it":{"name":"Siringocistoadenoma papillifero","synonyms":["Idradenoma verrucoso fistoloso vegetante","Nevo siringocistadenomatoso papillifero","SCAP","Siringadenoma papillifero","Siringocistoadenoma papillare"],"definition":"Si tratta di una neoplasia annessiale benigna rara, che origina dalle ghiandole sudoripare apocrine o eccrine, caratterizzata, dal punto di vista istologico, da invaginazioni cistiche, papillari e duttali nel derma, rivestite da epitelio esterno cuboide a doppio strato e da epitelio colonnare alto luminale e collegato all'epidermide. Sono caratteristici i capillari dilatati e un denso infiltrato di plasmacellule. Dal punto di vista clinico, le lesioni sono asintomatiche, hanno un aspetto eterogeneo e non distintivo, e consistono in papule o placche con lo stesso colore della cute oppure rosa, in genere localizzate sulla testa e sul collo."},"nl":{"name":"Syringocystadenoma papilliferum","synonyms":["Fistuleus vegetatief verruceus hidradenoom","Naevus syringocystadenomatosus papilliferus","Papillair syringocystadenoom","SCAP","Syringadenoma papilliferum"],"definition":"Een zeldzaam niet-maligne neoplasma van adnex dat ontstaat in apocriene of eccriene zweetklieren, en dat histologisch gekenmerkt wordt door cystische, papillaire, en ductale invaginaties in dermis die zijn bekleed met een buitenste kubusvormig epitheel en een luminaal hoog cilindrisch epitheel en die verbonden zijn met epidermis. Gedilateerde capillairen en een dens infiltraat van plasmacellen zijn typerend. Klinisch zijn de laesies asymptomatisch met een heterogeen, niet-kenmerkend uiterlijk gaande van huidkleurige tot roze papels of plaques, doorgaans op het hoofd of de hals."},"pt":{"name":"Siringocistoadenoma papilífero","synonyms":["Hidradenoma verrucoso vegetativo fístuloso","Hidradenoma verrugoso vegetativo fistuloso","Nevo siringocistoadenomatoso papilífero","Siringoadenoma papilífero"]},"pl":{"name":"Torbielakogruczolak syringialny brodawkujący","synonyms":["SCAP","Torbielakogruczolak brodawkujący"]},"cs":{"name":"Syringocystadenoma papilliferum","synonyms":["Fistulózní vegetativní verukózní hydradenom","Naevus syringocystadenomatosus papilliferus","SCAP","Syringadenoma papilliferum"]},"uk":{"name":"Сирингоцистаденома папілярна","synonyms":["Норицева вегетативна веррукозна гідраденома","Невус сирингоцистаденоматозний папілярний","Папілярна сирингоцистаденома","SCAP","Сирингоаденома папілярна"],"definition":"A rare non-malignant adnexal neoplasm that originates from the apocrine or eccrine sweat glands and is characterized histologically by cystic, papillary, and ductal invaginations into the dermis lined by double-layered outer cuboidal and luminal high columnar epithelium and connected to the epidermis. Dilated capillaries and a dense infiltrate of plasma cells are characteristic. Clinically, lesions are asymptomatic with a heterogeneous, non-distinctive appearance ranging from skin-colored to pink papules or plaques, occurring most commonly in the head and neck area."},"zh":{"name":"乳头状汗管囊腺瘤","synonyms":["痣合并乳头状汗管囊腺瘤"]},"tr":{"name":"Syringocystadenoma papilliferum","synonyms":["SCAP","Sirengadenom papilliferum","Fistülöz vejetatif verrüköz hidradenom","Naevus siringosistadenomatozus papilliferus"]}},"xrefs":[{"source":"ICD-10","code":"D23.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LC0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"530424877"},{"source":"MONDO","code":"0019392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406803","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5100","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042926","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25532942[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":730.0,"area":"Worldwide","status":"Validated","source":"16418676[PMID]_EXPERT"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010815","label":"Nevus sebaceous","frequency":"Occasional (29-5%)","criteria":null}]}}