{"orpha":85453,"name":"X-linked reticulate pigmentary disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XLPDR","Familial cutaneous amyloidosis","PDR","Partington disease","X-linked cutaneous amyloidosis"],"definition":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85453/","orphanet_url":"https://www.orpha.net/en/disease/detail/85453","names":{"fr":{"name":"Pigmentation réticulée liée au chromosome X","synonyms":["Amylose cutanée familiale","Amylose cutanée liée à l'X","Maladie de Partington","XLPDR"],"definition":"La pigmentation réticulée liée au chromosome X avec manifestations systémiques est une maladie cutanée extrêmement rare décrite uniquement chez quatre familles jusqu'à présent. Chez les hommes, elle est caractérisée par des lésions cutanées hyperpigmentées brunes, réticulées et diffuses se développant dans la petite enfance, associées à une variété de manifestations systémiques (pneumonie récurrente, opacification cornéenne, inflammation gastrointestinale, sténose urétrale, retard de croissance staturo-pondérale, hypohidrose, hippocratisme digital, cheveux indisciplinés et sourcils évasés). Chez les femmes, l'atteinte est uniquement cutanée, avec le développement au cours de la petite enfance de lésions cutanées hyperpigmentées brunes localisées suivant les lignes de Blaschko. La maladie a été considérée initialement comme une amylose cutanée, mais les dépôts amyloïdes ne sont pas une caractéristique constante."},"de":{"name":"X-chromosomale retikuläre Pigmentierungsstörung","synonyms":["Amyloidose, kutane, X-chromosomale","Amyloidose, kutane, familiäre Form","PDR","Partington-Krankheit","XLPDR"],"definition":"Die X-chromosomale retikuläre Pigmentstörung ist eine extrem seltene Hautkrankheit, die bisher nur in 4 Familien beschrieben wurde. Die betroffenen männlichen Personen haben braun hyperpigmentierte, diffus netzförmige Hautläsionen, die in früher Kindheit entstehen, sowie verschiedene systemische Manifestationen (rezidivierende Pneumonien, Hornhauttrübung, Entzündungen des Magendarmtraktes, Urethrastenose, Gedeihstörung, Hypohidrose, Trommelschlegelfinger, wildes Haar und üppige Augenbrauen). Die betroffenen weiblichen Personen haben nur Hautsymptome: In der frühen Kindheit entstehende braune hyperpigmentierte Hautläsionen, die den Blasko-Linien folgen. Diese Krankheit wurde anfangs als kutane Amyloidose eingestuft, aber Amyloidablagerungen sind kein konstantes Merkmal."},"es":{"name":"Trastorno pigmentario reticular ligado al cromosoma X","synonyms":["Amiloidosis cutánea familiar","Amiloidosis cutánea ligada al cromosoma X","Enfermedad de Partington","PDR","XLPDR"],"definition":"El trastorno pigmentario reticular ligado al X es una enfermedad de la piel extremadamente rara descrita sólo en cuatro familias hasta la fecha y que se caracteriza en varones por lesiones cutáneas hiperpigmentadas marrones reticuladas difusas que se desarrollan en la primera infancia y una variedad de manifestaciones sistémicas (neumonía recurrente, opacificación corneal, inflamación gastrointestinal, estenosis uretral, retraso en el desarrollo, hipohidrosis, hipocratismo digital, y cabello rebelde y cejas acampanadas), mientras que, en mujeres, tan solo se da una afección cutánea en la primera infancia con el desarrollo de lesiones cutáneas hiperpigmentadas marrones localizadas siguiendo las líneas de Blaschko. Esta enfermedad fue considerada al principio como una amiloidosis cutánea, pero los depósitos amiloides no son una característica constante."},"it":{"name":"Disturbo reticolare della pigmentazione legato all'X con segni sistemici","synonyms":["Amiloidosi cutanea familiare","Amiloidosi cutanea legata all'X","Amiloidosi di Partington","Malattia di Partington","PDR","XLPDR"],"definition":"Il disturbo reticolare della pigmentazione legato all'X è una malattia cutanea estremamente rara descritta solo in quattro famiglie; nei maschi è caratterizzata da lesioni cutanee iperpigmentate reticolari diffuse brune, che si sviluppano nella prima infanzia, e da un insieme di sintomi sistemici (polmonite ricorrente, opacizzazione corneale, infiammazione gastrointestinale, stenosi uretrale, ritardo della crescita, ipoidrosi, ippocratismo digitale, capelli ribelli e sopracciglia arcuate); le femmine mostrano solo un interessamento della cute con la presenza, nella prima infanzia, di lesioni cutanee brune iperpigmentate localizzate lungo le linee di Blaschko. In precedenza, questa malattia veniva definita come amiloidosi cutanea, sebbene i depositi di amiloide rappresentino un segno incostante."},"nl":{"name":"X-gebonden reticulaire pigmentstoornis","synonyms":["Familiale cutane amyloïdose","PDR","X-gebonden cutane amyloïdose","XLPDR","Ziekte van Partington"],"definition":"Een uiterst zeldzame aandoening van huid, tot op heden beschreven bij slechts vier families, en bij mannen gekenmerkt door diffuse reticulaire bruine gehyperpigmenteerde huidlaesies die ontwikkelen in de vroege kindertijd, alsook een waaier van systemische manifestaties (recidiverende pneumonie, hoornvliestroebeling, gastro-intestinale inflammatie, vernauwing van urethra, niet-gedijen, hypohidrose, trommelstokvingers, en weerbarstig haar en brede wenkbrauwen), terwijl bij vrouwen enkel huid betrokken is, met ontwikkeling in de vroege kindertijd van gelokaliseerde bruine gehyperpigmenteerde huidlaesies langs lijnen van Blaschko. Deze ziekte werd eerst beschouwd als cutane amyloïdose, maar afzettingen van amyloïd zijn niet altijd aanwezig."},"pt":{"name":"Doença de Partington"},"pl":{"name":"Siateczkowate zaburzenie barwnikowe sprzężone z chromosomem X","synonyms":["Amyloidoza skórna sprzężona z chromosomem X","Choroba Partingtona","PDR","Rodzinna amyloidoza skórna","PDR","XLPDR","Choroba Partingtona","Rodzinna amyloidoza skórna","Amyloidoza skórna sprzężona z chromosomem X"]},"cs":{"name":"X-vázaná porucha retikulární pigmentace se systémovou manifestací","synonyms":["Familiární kožní amyloidóza","PDR","Partingtonova nemoc","X-vázaná kožní amyloidóza","XLPDR"]},"uk":{"name":"Х-зчеплене ретикулярне пігментне захворювання","synonyms":["Сімейний шкірний амілоїдоз","Хвороба Паркінсона","PDR","Х-зчеплений шкірний амілоїдоз","XLPDR"],"definition":"X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature."},"zh":{"name":"X-连锁网状色素异常症","synonyms":["X-连锁皮肤淀粉样变"]},"tr":{"name":"X'e bağlı retikülat pigment bozukluğu","synonyms":["PDR","XLPDR","Partington hastalığı","Ailesel kutanöz amiloidoz","X'e bağlı kutanöz amiloidoz"]}},"xrefs":[{"source":"OMIM","code":"301220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"L99.0*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010523","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1845050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":717868,"name":"Rare skin disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"POLA1","name":"DNA polymerase alpha 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27019227[PMID]","hgnc":"9173","ensembl":"ENSG00000101868","omim":"312040","loci":["Xp22.11-p21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}