{"orpha":498359,"name":"Aquagenic palmoplantar keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aquagenic keratoderma","Aquagenic syringeal acrokeratoderma","Aquagenic wrinkling of the palms","Transient reactive papulotranslucent acrokeratoderma"],"definition":"A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498359/","orphanet_url":"https://www.orpha.net/en/disease/detail/498359","names":{"fr":{"name":"Kératodermie palmoplantaire aquagénique","synonyms":["Acrokératodermie syringéale aquagénique","Acrokératodermie transitoire réactive papulotranslucide","Kératodermie aquagénique","Kératodermie aquagénique palmaire","Kératodermie palmo-plantaire aquagénique","Pseudo-kératodermie aquagénique palmaire","Rides aquagéniques des paumes"],"definition":"Maladie rare de la peau caractérisée par un aspect ridé transitoire de la peau, un oedème, la formation de papules blanchâtres, un prurit, une sensation de brûlure ou une douleur sur la paume des mains et/ou la plante des pieds au contact de l'eau. La durée de l'exposition et la température de l'eau influencent la vitesse de développement et l'intensité des lésions. La maladie est plus fréquente chez les femmes que chez les hommes et se manifeste fréquemment chez les patients atteints de mucoviscidose."},"de":{"name":"Palmoplantarkeratose, aquagene","synonyms":["Akrokeratoderm, aquagenes","Aquagenes syringeales Akrokeratoderm","Faltenbildung der Handflächen, aquagene","Keratodermie, aquagene palmoplantare","Transientes reaktives papulotransluzentes Akrokeratoderm"],"definition":"Eine seltene Hauterkrankung, die durch vorübergehende Faltenbildung der Haut, Ödeme, Bildung weißlicher Papeln, Juckreiz, Brennen oder Schmerzen an den Handflächen und/oder Fußsohlen als Reaktion auf den Kontakt mit Wasser gekennzeichnet ist. Die Dauer der Exposition und die Wassertemperatur beeinflussen die Geschwindigkeit der Entwicklung und die Intensität der Läsionen. Die Erkrankung ist bei Frauen häufiger als bei Männern und tritt häufig bei Patienten mit Mukoviszidose auf."},"es":{"name":"Queratodermia palmoplantar acuagénica","synonyms":["Acroqueratodermia papulo-translúcida reactiva transitoria","Acroqueratodermia siríngea acuagénica","Arrugas acuagénicas de las palmas","Queratodermia acuagénica"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por arrugas transitorias de la piel, edema, formación de pápulas blanquecinas, prurito y sensación de ardor o dolor en las palmas de las manos y/o las plantas de los pies en respuesta al contacto con el agua. La duración de la exposición y la temperatura del agua afectan al grado de desarrollo e intensidad de las lesiones. Esta afección es más común en mujeres que en hombres y suele ocurrir en pacientes con fibrosis quística."},"it":{"name":"Cheratoderma palmoplantare acquagenico","definition":"Si tratta di una malattia cutanea rara, caratterizzata da rughe transitorie della cute, edema, papule biancastre, prurito, bruciore o dolore sul palmo delle mani e/o sulla pianta dei piedi causati dal contatto con l'acqua. La durata del contatto e la temperatura dell'acqua influenzano la velocità di insorgenza e la gravità delle lesioni. La malattia colpisce maggiormente le femmine, che spesso sono affette da fibrosi cistica."},"nl":{"name":"Aquagene palmoplantaire keratodermie","synonyms":["Aquagene keratodermie","Aquagene rimpeling van handpalmen","Aquagene syringeale acrokeratodermie","Voorbijgaande reactieve papulotranslucente acrokeratodermie"],"definition":"Een zeldzame aandoening van huid, gekarakteriseerd door tijdelijke rimpeling van huid, oedeem, vormig van witte papels, pruritus, brandend gevoel, of pijn, aan handpalmen en/of voetzolen als reactie op contact met water. De duur van de blootstelling en de temperatuur van het water beïnvloeden de intensiteit van de laesies en de snelheid waarmee ze ontwikkelen. De aandoening komt vaker voor bij vrouwen dan bij mannen, en komt vaak voor bij patiënten met cystische fibrose."},"pt":{"name":"Queratodermia palmoplantar aquagénica"},"pl":{"name":"Rogowiec dłoni i stóp zależny od kontaktu z wodą","synonyms":["Rogowiec zależny od kontaktu z wodą","Pomarszczenie dłoni zależne od wody","Rogowiec dłoni i stóp zależny od wody","Rogowiec dłoni i stóp z przejściowymi reaktywnymi przeświecającymi grudkami"]},"cs":{"name":"Palmoplantární keratoderma způsobená vodou","synonyms":["Aquagenic keratoderma","Aquagenic wrinkling of the palms","Aquagenic syringeal acrokeratoderma","Transient reactive papulotranslucent acrokeratoderma","Akvagenní keratoderma","Akvagenní vrásnění dlaní","Akvagenní syringeální akrokeratoderma","Přechodná reaktivní papulotranslucentní akrokeratoderma"]},"uk":{"name":"Аквагенна долонно-підошовна кератодермія","synonyms":["Аквагенна кератодермія","Аквагенна сироваткова акрокератодермія","Аквагенні зморшки на долонях","Транзиторна реактивна папульозно-прозора акрокератодермія"],"definition":"A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis."},"zh":{"name":"水源性掌跖角化病","synonyms":["短暂反应性丘疹半透明性角化病"]},"tr":{"name":"Akuajenik palmoplantar keratoderma","synonyms":["Akuajenik keratoderma","Avuç içlerinin akuajenik kırışması","Akuajenik siringeal akrokeratoderma","Geçici reaktif papülotranslucent akrokeratoderma"]}},"xrefs":[{"source":"ICD-10","code":"L85.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EK5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1401222913"},{"source":"MONDO","code":"0044663","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4087301","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12991","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]}],"children":[],"genes":[{"symbol":"CFTR","name":"CF transmembrane conductance regulator","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"1884","ensembl":"ENSG00000001626","omim":"602421","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24283504[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-01","source":"31310009[PMID]_31310009[PMID]_32986261[PMID]","terms":[{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007407","label":"Excessive skin wrinkling on dorsum of hands and fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025080","label":"Orthokeratotic hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031248","label":"Palmar pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007410","label":"Palmoplantar hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031289","label":"White papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006261","label":"Abnormal phalangeal joint morphology of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null}]}}