{"orpha":79153,"name":"Idiopathic trachyonychia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79153/","orphanet_url":"https://www.orpha.net/en/disease/detail/79153","names":{"fr":{"name":"Trachyonychie idiopathique","definition":"Anomalie isolée rare des ongles caractérisée par un aspect rugueux et opaque de l'ongle devenant fragile et par des hyperstriations longitudinales. Dans une forme moins sévère, les ongles conservent leur lustre et présentent des stries superficielles et de multiples petites piqûres disposées de manière géométrique. Dans les deux formes, on observe une desquamation superficielle de la plaque unguéale et une hyperkératose des cuticules, ainsi qu'une koïlonychie et une onychoschizie. Le nombre d'ongles affectés peut varier, les ongles des mains étant plus souvent affectés que ceux des pieds. Une amélioration spontanée peut s'observer."},"de":{"name":"Trachyonychia idiopathica","definition":"Eine seltene isolierte Nagelanomalie, die durch brüchige, dünne, rauhe, undurchsichtig erscheinende Nägel mit übermäßiger Längsrippung gekennzeichnet ist. Bei einer milderen Form behalten die Nägel ihren Glanz und weisen eine oberflächliche Riffelung und mehrere kleine geometrische Grübchen auf. Bei beiden Formen werden eine oberflächliche Schuppung der Nagelplatte und eine Hyperkeratose der Nagelhaut sowie Koilonychien und Onychoschisis beobachtet. Es können beliebig viele Nägel betroffen sein, wobei die Fingernägel häufiger betroffen sind als die Zehennägel. Eine spontane Besserung ist möglich."},"es":{"name":"Displasia ungueal","definition":"Es una anomalía ungueal aislada poco frecuente caracterizada por uñas quebradizas, finas, ásperas y de apariencia opaca con numerosas estrías longitudinales. En las formas más leves, las uñas conservan su brillo y presentan estrías superficiales y múltiples depresiones geométricas diminutas. En ambas variantes se observa una descamación superficial de la placa ungueal y una hiperqueratosis de las cutículas, así como coiloniquia y onicosquisis. Puede afectar a una o a varias uñas y, con mayor frecuencia, a las de las manos. Puede producirse una mejoría espontánea de la afección."},"it":{"name":"Trachionichia idiopatica","synonyms":["Distrofia delle venti unghie","Onicodistrofia totale"],"definition":"Si tratta di un'anomalia isolata rara delle unghie, caratterizzata da unghie fragili, sottili, ruvide e opache con cresta longitudinale marcata. Nella forma meno grave, le unghie preservano la lucentezza e presentano creste superficiali e diverse piccole fossette geometriche. In entrambe le varianti i pazienti presentano una desquamazione superficiale della lamina dell'unghia, ipercheratosi delle cuticole, coilonichia e onicoschizia. L'anomalia può interessare più unghie; quelle della mano sono maggiormente colpite rispetto a quelle del piede. La malattia può migliorare spontaneamente nel tempo."},"nl":{"name":"Idiopathische trachyonychie","definition":"Een zeldzame geïsoleerde anomalie van nagel, gekarakteriseerd door broze, dunne, ruwe, ondoorzichtig lijkende nagels met excessieve longitudinale groeven. In een minder ernstige vorm behouden de nagels hun glans en zijn oppervlakkige groeven en multipele kleine geometrische putjes aanwezig. Bij beide varianten worden oppervlakkige afschilfering van nagelplaat en hyperkeratose van nagelriem, alsook koilonychie en onychoschisis waargenomen. Een willekeurig aantal nagels kan aangetast worden, en vingernagels worden vaker getroffen dan teennagels. Spontane verbetering van de aandoening kan voorkomen."},"pt":{"name":"Displasia das unhas","synonyms":["Distrofia das vinte unhas","Onicodistrofia total"]},"pl":{"name":"Autosomalna dominująca dysplazja paznokci","synonyms":["Całkowita dystrofia paznokci","Dystrofia dwudziestu paznokci"]},"cs":{"name":"Autozomálně dominantní dysplázie nehtů","synonyms":["Totální onychodystrofie","Trachyonychie"]},"uk":{"name":"Ідіопатична трахіоніхія","definition":"A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur."},"zh":{"name":"特发性指甲粗糙脆裂"},"tr":{"name":"İdiyopatik trakiyonikya"}},"xrefs":[{"source":"ICD-10","code":"L60.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"778448276"},{"source":"MONDO","code":"0008060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10363","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79369,"name":"Isolated nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-30","source":"31923322[PMID]_27843915[PMID]","terms":[{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100803","label":"Abnormality of the periungual region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001598","label":"Concave nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001803","label":"Nail pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001816","label":"Thin nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008399","label":"Circumungual hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100797","label":"Toenail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Excluded (0%)","criteria":null}]}}