{"orpha":141219,"name":"Nasal dorsum fistula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141219/","orphanet_url":"https://www.orpha.net/en/disease/detail/141219","names":{"fr":{"name":"Fistule du dos du nez","definition":"Malformation othorinolaryngologique rare caractérisée par la présence d'un kyste dermoïde, localisé sur le dos du nez et se manifestant par une fistule, qui s'étend souvent à la région intracrânienne. Les patients présentent une masse solide d'évolution lente, qui renferme des éléments cutanés et épidermiques (dont follicules pileux et glandes sébacées) non compressifs, avec test de transillumination négatif. Des sécrétions sébacées chroniques ou intermittentes, des déformations des tissus mous et osseuses, et des infections localisées sont parfois associées. Méningite, convulsions et abcès cérébraux peuvent être observés en cas d'extension intracrânienne."},"de":{"name":"Nasenrückenfistel","definition":"Eine seltene otorhinolaryngologische Fehlbildung, die durch das Vorhandensein einer Dermoidzyste auf dem Nasenrücken gekennzeichnet ist, die eine Fistel bildet, die sich oft bis in den intrakraniellen Bereich erstreckt. Die Patienten weisen eine feste, langsam wachsende Masse auf, die Haut- und Hautelemente (einschließlich Haarfollikel und Talgdrüsen) enthält, die nicht transilluminieren oder komprimieren, und die mit intermittierendem oder chronischem Talgausfluss, Weichteil- und Skelettdeformationen und lokalen Infektionen einhergehen kann. Hirnhautentzündung, Krämpfe und Hirnabszesse können beobachtet werden, wenn eine intrakranielle Ausbreitung vorliegt."},"es":{"name":"Fístula dorso nasal","definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por un quiste dermoide localizado en el dorso nasal que presenta una fístula que a menudo se extiende hasta la región intracraneal. Los pacientes presentan una masa firme de crecimiento lento que contiene elementos cutáneos y dérmicos (incluyendo folículos pilosos y glándulas sebáceas), que no se transilumina ni comprime, y que puede estar asociada a descarga intermitente o crónica de material sebáceo o tejido blando, y a deformidad esquelética e infección local. En aquellos casos con extensión intracraneal, se ha descrito meningitis, crisis y abscesos cerebrales."},"it":{"name":"Fistola del dorso del naso","definition":"È una malformazione rara di interesse otorinolaringoiatrico, caratterizzata da una cisti dermoide sul dorso del naso, con una fistola che spesso si estende intracranialmente. I pazienti presentano una massa solida, a crescita lenta, che contiene cute ed elementi dermici (follicoli piliferi e ghiandole sebacee), non risponde alla transilluminazione e non si comprime; può associarsi a fuoriuscita intermittente o cronica di materiale sebaceo, tessuto molle, deformità scheletriche e infezione locale. Nel caso di estensione intracranica, i pazienti possono presentare meningite, convulsioni e ascessi cerebrali."},"nl":{"name":"Neusdorsumfistel","definition":"Een zeldzame otorinolaryngologische malformatie die gekarakteriseerd wordt door de aanwezigheid van een dermoïde cyste op de neusrug met een fistel die vaak uitbreidt tot in de intracraniale regio. Patiënten vertonen een stevige, traag groeiende massa die huid en dermale elementen bevat (inclusief haarfollikels en sebaceuze klieren), al dan niet met transilluminatie of compressie, en die mogelijk geassocieerd is met intermitterende of chronische afscheiding van sebaceus materiaal, misvorming van weke delen en het skelet, en lokale infectie. In geval van intracraniale uitbreiding kunnen mogelijk meningitis, convulsies en cerebrale abcessen waargenomen worden."},"pt":{"name":"Fístula do dorso nasal"},"pl":{"name":"Przetoka/torbiel grzbietu nosa"},"cs":{"name":"Píštěl/cysta nosního hřbetu"},"uk":{"name":"Нориця спинки носа","definition":"A rare otorhinolaryngological malformation characterized by the presence of a dermoid cyst, located on the dorsum of the nose, which presents a fistula, often extending to the intracranial region. Patients present a firm, slow-growing mass, which contains skin and dermal elements (including hair follicles and sebaceous glands), that do not transilluminate or compress, and may be associated with intermittent or chronic discharge of sebaceous material, soft tissue and skeletal deformity, and local infection. Meningitis, convulsions and cerebral abscess may be observed if intracranial extension exists."},"zh":{"name":"鼻背侧瘘管","definition":"一种罕见的耳鼻喉畸形，其特征是位于鼻背部且表现为瘘管的皮样囊肿，常延伸至颅内区域。患者出现一个坚硬、生长缓慢的肿块，其中含有皮肤和真皮成分（包括毛囊和皮脂腺），该肿块不透光且无压迫，可能与皮脂物质间歇性或慢性排出、软组织和骨骼畸形以及局部感染相关。如有颅内扩张，可出现脑膜炎、痉挛和脑脓肿。"},"tr":{"name":"Burun dorsum fistülü"}},"xrefs":[{"source":"ICD-10","code":"Q18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"779089925"},{"source":"MONDO","code":"0015410","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0339853","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":155835,"name":"Cysts and fistulae of the face and oral cavity","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}