{"orpha":88621,"name":"Ichthyosis-prematurity syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital ichthyosis type 4","IPS"],"definition":"A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88621/","orphanet_url":"https://www.orpha.net/en/disease/detail/88621","names":{"fr":{"name":"Syndrome d'ichtyose-prématurité","synonyms":["IPS","Ichtyose congénitale type 4"],"definition":"Ichtyose congénitale rare et syndromique caractérisée par une naissance prématurée (en général au bout de 30 à 32 semaines de grossesse) associée à un épiderme épaissi, caséeux et desquamant, une asphyxie respiratoire néonatale et une éosinophilie persistante. Après la période néonatale, on observe une amélioration spontanée de la santé des patients, et les anomalies cutanées (desquamation de type vernix caseosa) évoluent vers une légère hyperkératose folliculaire plate avec atopie."},"de":{"name":"Ichthyose-Frühgeburt-Syndrom","synonyms":["IPS","Ichthyose, kongenitale, Typ 4"],"definition":"Eine seltene, syndromale kongenitale Ichthyose, die mit dem Auftreten einer Frühgeburt einhergeht (im Allgemeinen in den Schwangerschaftswochen 30-32). Die Krankheit manifestiert sich mit dicker, käsiger und abschuppender Epidermis, neonataler respiratorischer Asphyxie und persistierender Eosinophilie. Nach der perinatalen Periode wird eine spontane Besserung des Gesundheitszustandes der betroffenen Patienten beobachtet und die Hautmerkmale (vernix caseosa-ähnliche Schuppung) entwickeln sich zu einer milden Präsentation einer flachen follikulären Hyperkeratose mit Atopie."},"es":{"name":"Síndrome de ictiosis y prematuridad","synonyms":["IPS","Ictiosis congénita tipo 4"],"definition":"Es una ictiosis congénita sindrómica poco frecuente caracterizada por el nacimiento prematuro (por lo general, a las 30-32 semanas de gestación) y cambios epidérmicos caracterizados por una descamación gruesa tipo caseoso, asfixia respiratoria neonatal y eosinofilia persistente. Tras el periodo neonatal se observa una mejoría espontánea tanto de la sintomatología general como del proceso cutáneo (escamas tipo vérnix caseosa) evolucionando a una discreta hiperqueratosis folicular con atopia."},"it":{"name":"Sindrome ittiosi-prematurità","synonyms":["IPS","Ittiosi congenita, tipo 4"],"definition":"La sindrome ittiosi-prematurità è una forma rara di ittiosi congenita sindromica, caratterizzata da nascita prematura (di solito la durata della gravidanza è compresa tra 30 e 32 settimane) associata a epidermide spessa, desquamata, dall'aspetto simile alla vernice caseosa, asfissia neonatale ed eosinofilia persistente. Dopo il periodo perinatale, il quadro clinico dei pazienti tende a migliorare, mentre i segni cutanei (squame simili alla vernice caseosa) evolvono in una forma lieve di ipercheratosi follicolare piatta, associata ad atopia."},"nl":{"name":"Ichthyosis - prematuriteit-syndroom","synonyms":["Congenitale ichthyosis type 4","IPS"],"definition":"Een zeldzame, syndromale congenitale ichthyosis, gekenmerkt door premature geboorte (algemeen in week 30-32 van de zwangerschap) en daarnaast dikke, kaasachtige en afschilferende epidermis, neonatale respiratoire asfyxie, en aanhoudende eosinofilie. Na de perinatale periode wordt een spontane verbetering van de gezondheid van getroffen patiënten waargenomen en de kenmerken van huid (vernix caseosa-achtige schilfers) evolueren naar een milde platte folliculaire hyperkeratose met atopie."},"pt":{"name":"Síndrome da ictiose da prematuridade"},"pl":{"name":"Zespół rybiej łuski wcześniaków","synonyms":["IPS","Wrodzona rybia łuska typu 4"],"definition":"Rzadka, syndromiczna wrodzona rybia łuska charakteryzująca się obecnością grubego, łuszczącego się naskórka i uporczywą eozynofilią. Dzieci rodzą się przedwcześnie (zwykle w 30-32 tygodniu ciąży), w zamartwicy oddechowej. Po okresie okołoporodowym obserwuje się samoistną poprawę stanu zdrowia, a objawy skórne (łuska przypominająca maź płodową) ewoluują w łagodną postać płaskiej hiperkeratozy mieszkowej z atopią."},"cs":{"name":"Syndrom ichtyózy a předčasného narození (prematurity)","synonyms":["Vrozená ichtyóza, typ 4","IPS"]},"uk":{"name":"Синдром іхтіозу у передчаснораноджених","synonyms":["Вроджений іхтіоз типу 4","IPS"],"definition":"A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy."},"zh":{"name":"鱼鳞病-性早熟综合征","synonyms":["先天性鱼鳞病4型"]},"tr":{"name":"İktiyoz-prematüre sendromu","synonyms":["IPS","Doğumsal iktiyoz tip 4"]}},"xrefs":[{"source":"OMIM","code":"608649","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"524111974"},{"source":"MONDO","code":"0012089","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837610","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]}],"children":[],"genes":[{"symbol":"SLC27A4","name":"solute carrier family 27 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19631310[PMID]","hgnc":"10998","ensembl":"ENSG00000167114","omim":"604194","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"19631310[PMID]","terms":[{"hpo":"HP:0007549","label":"Desquamation of skin soon after birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null}]}}