{"orpha":3361,"name":"Trichodysplasia-xeroderma syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3361/","orphanet_url":"https://www.orpha.net/en/disease/detail/3361","names":{"fr":{"name":"Syndrome de trichodysplasie-xérodermie","definition":"Syndrome rare avec anomalie de la gaine des cheveux caractérisé par des cheveux clairsemés, grossiers, cassants, excessivement secs et à croissance lente, des poils axillaires et pubiens clairsemés, des cils et des sourcils clairsemés ou absents et une peau sèche. L'analyse de la tige du cheveu met en évidence des pili torti, des fentes longitudinales, des stries, une exfoliation et des squames. Aucun cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Trichodysplasie-Xerodermie-Syndrom","definition":"Eine extrem seltene, syndromale Haarschaftanomalie, die durch spärliches, grobes, brüchiges, übermäßig trockenes und langsam wachsendes Kopfhaar, spärliches Achsel- und Schamhaar, spärliche oder fehlende Wimpern und Augenbrauen sowie trockene Haut gekennzeichnet ist. Die Haarschaftanalyse zeigt Pili torti, Längsspalten, Rillen, Peeling und Schuppung. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de tricodisplasia-xerodermia","definition":"Es una alteración sindrómica del tallo capilar extremadamente poco frecuente caracterizada por un cabello escaso, ralo, quebradizo, excesivamente seco y de crecimiento lento, con un vello púbico y axilar escaso, cejas y pestañas escasas o ausentes, y piel seca. El estudio del tallo capilar muestra pili torti, roturas y surcos longitudinales y descamación. Desde el año 1987 no se han descrito casos adicionales en la literatura."},"it":{"name":"Sindrome tricodisplasia - xeroderma","definition":"La tricodisplasia-xeroderma è una sindrome molto rara del fusto del capello, caratterizzata da capelli radi, grossolani, fragili, secchi, a crescita lenta, o peli pubici e ascellari radi, ciglia e sopracciglia rade o assenti e cute secca. L'analisi del fusto del capello mostra pili torti, separazione sull'asse longitudinale, scanalature e desquamazione. Non sono stati descritti nuovi casi dopo il 1987."},"nl":{"name":"Trichodysplasie - xerodermie-syndroom","definition":"Trichodysplasie - xerodermie-syndroom is een uiterst zeldzame, syndromale anomalie van de haarschacht die gekarakteriseerd wordt door schaars, grof, broos, uitermate droog en traag groeiend hoofdhaar, schaars oksel- en schaamhaar, schaarse of afwezige wimpers en wenkbrauwen, en een droge huid. Analyse van haarschachten toont pili torti, longitudinale splijting, groeven, vervelling en afschilfering. Sinds 1987 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de tricodisplasia-xerodermia"},"pl":{"name":"Trichodysplazja - kseroderma"},"cs":{"name":"Syndrom zahrnující trichodysplázii a xerodermii"},"uk":{"name":"Синдром триходисплазії-ксеродермії","definition":"Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987."},"zh":{"name":"毛发发育不良-干皮病综合征"},"tr":{"name":"Trikodisplazi-kseroderma sendromu"}},"xrefs":[{"source":"OMIM","code":"190360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707844","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3608221[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3608221[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null}]}}