{"orpha":436274,"name":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PXE-like syndrome with retinitis pigmentosa"],"definition":"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436274/","orphanet_url":"https://www.orpha.net/en/disease/detail/436274","names":{"fr":{"name":"Syndrome pseudoxanthome élastique-like avec rétinite pigmentaire","synonyms":["Syndrome PXE-like avec rétinite pigmentaire"],"definition":"Anomalie génétique rare de l'élasticité du derme caractérisée par des papules cutanées jaunâtres (ressemblant à un pseudoxanthome élastique) localisées sur la nuque, la poitrine et/ou les zones de flexion et associées à une peau redondante, distendue et lâche sur le tronc et les membres supérieurs, ainsi qu'à une rétinite pigmentaire, en l'absence de troubles de la coagulation. Les patients présentent une diminution de la vision nocturne et périphérique, ainsi qu'une pâleur du nerf optique, une perte d'épithélium pigmentaire rétinien, des vaisseaux rétiniens moins denses et/ou des amas de pigments noirs s'accumulant dans la rétine."},"de":{"name":"Pseudoxanthoma elasticum-ähnliche Hautmanifestationen mit Retinis pigmentosa","synonyms":["PXE-ähnliches Syndrom mit Retinis pigmentosa"],"definition":"Eine seltene, genetisch bedingte Störung des elastischen Gewebes der Dermis, die gekennzeichnet ist durch gelbliche Hautpapeln (ähnlich dem Pseudoxanthoma elasticum) am Hals/Nacken, Brust und/oder im Bereich der Beugeseiten in Verbindung mit lockerer, überflüssiger, schlaffer Haut am Rumpf und an den oberen Gliedmaßen. Die Störung umfasst eine Retinitis pigmentosa, ohne dass Anomalien der Blutgerinnung vorliegen. Die Patienten weisen ein vermindertes Nacht- und peripheres Sehvermögen sowie eine Abblassung des Sehnervs, einen Verlust des retinalen Pigmentepithels, eine Schwächung der Netzhautgefäße und/oder eine intraretinale Ansammlung von schwarzem Pigment."},"es":{"name":"Manifestaciones cutáneas similares al pseudoxantoma elástico con retinosis pigmentaria","synonyms":["Manifestaciones cutáneas pseudoxantoma elástico-like con retinosis pigmentaria","Síndrome similar a PEX con retinosis pigmentaria"],"definition":"Es un trastorno del tejido elástico de la dermis, de origen genético y poco frecuente, caracterizado por pápulas cutáneas de color amarillento (similares al pseudoxantoma elástico) localizadas en el cuello, el tórax y/o áreas de flexión asociadas a piel redundante y flácida en el tronco y extremidades superiores, así como a retinosis pigmentaria en ausencia de trastornos de la coagulación. Los pacientes presentan reducción de la visión periférica y nocturna, así como palidez del nervio óptico, pérdida del epitelio pigmentario de la retina, atenuación de los vasos retinianos y/o acúmulo intrarretiniano de pigmento negro."},"it":{"name":"Segni cutanei simil-pseudoxantoma elastico con retinite pigmentosa","synonyms":["Sindrome PXE-simile con retinite pigmentosa"],"definition":"È una malattia genetica rara del tessuto elastico del derma, caratterizzata da papule cutanee giallastre (che ricordano lo pseudoxantoma elastico) localizzate sul collo, sul torace e/o sulle regioni flessorie, associate a cute flaccida, ridondante e cadente sul tronco e sugli arti superiori, e a retinite pigmentosa, in assenza di anomalie della coagulazione. I pazienti presentano una visione notturna e periferica ridotta, pallore del nervo ottico, perdita dell'epitelio pigmentato della retina, attenuazione dei vasi retinici e/o accumuli intraretinici di pigmento nero."},"nl":{"name":"Pseudoxanthoma elasticum-achtige huidmanifestaties met retinitis pigmentosa","synonyms":["PXE-achtig syndroom met retinitis pigmentosa"],"definition":"Een zeldzame, genetische stoornis van het elastische weefsel van de dermis, gekarakteriseerd door gelige huidpapels (gelijkend op pseudoxanthoma elasticum) op de nek/hals, borst en/of flexiegebieden geassocieerd met losse, overtollige, doorhangende huid op de romp en de bovenste ledematen, en retinitis pigmentosa, in afwezigheid van coagulatiestoornissen. Patiënten vertonen verminderd nachtzicht en verminderd perifeer zicht, alsook bleekheid van de oogzenuw, verlies van retinaal pigmentepitheel, verengde bloedvaten in het netvlies en/of intraretinale ophopingen van zwart pigment."},"pt":{"name":"Manifestações cutâneas pseudoxantoma elástico-like com retinite pigmentosa","synonyms":["Retinite pigmentosa com manifestações cutâneas semelhantes a pseudoxantoma elástico"]},"pl":{"name":"Objawy skórne podobne do kępek żółtych rzekomych ze zwyrodnieniem barwnikowym siatkówki","synonyms":["Zespół podobny do PXE ze zwyrodnieniem barwnikowym siatkówki"]},"cs":{"name":"Kožní forma pseudoxanthoma elasticum like s retinitis pigmentosa","synonyms":["Syndrom podobný PXE s retinitis pigmentosa"]},"uk":{"name":"Псевдоксантомоподібні еластичні шкірні прояви при пігментному ретиніті","synonyms":["PXE-подібний синдром з пігментним ретинітом"],"definition":"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps."},"zh":{"name":"假性黄嘌呤弹力样皮肤表现伴色素性视网膜炎","synonyms":["PEX样综合征合并色素性视网膜炎"],"definition":"一种罕见的遗传性弹性真皮组织疾病，其特征是位于颈部，胸部和/或弯曲部位出现淡黄色的皮肤丘疹（类似于弹性假性黄瘤），躯干和上肢皮肤松弛、冗余。下垂，还可合并色素性视网膜炎。没有凝血异常。患者的夜间和周围视力下降，视神经苍白，视网膜色素上皮细胞丢失，视网膜血管退化和/或视网膜内黑色素团块。"},"tr":{"name":"Retinitis pigmentosa ile seyreden psödoksantoma elastikum benzeri cilt belirtileri","synonyms":["Retinitis pigmentosa ile seyreden PXE benzeri sendrom"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE41.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018577","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680045","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"GGCX","name":"gamma-glutamyl carboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24739904[PMID]","hgnc":"4247","ensembl":"ENSG00000115486","omim":"137167","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"24739904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24739904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-08","source":"24739904[PMID]","terms":[{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007980","label":"Absent retinal pigment epithelium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007522","label":"Increased number of skin folds","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001098","label":"Abnormal fundus morphology","frequency":"Frequent (79-30%)","criteria":null}]}}