{"orpha":495,"name":"Transgrediens et progrediens palmoplantar keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Greither disease","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Progressive diffuse PPK","Progressive diffuse palmoplantar keratoderma","Transgrediens et progrediens PPK"],"definition":"A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495/","orphanet_url":"https://www.orpha.net/en/disease/detail/495","names":{"fr":{"name":"Kératodermie palmoplantaire transgrediens et progrediens","synonyms":["KPP diffuse progressive","KPP transgrediens et progrediens","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Kératodermie palmoplantaire diffuse progressive","Maladie de Greither"],"definition":"Kératodermie palmoplantaire diffuse isolée rare, caractérisée par une hyperkératose d'aspect rouge-jaune, d'intensité modérée à sévère, affectant la paume des mains et la plante des pieds, s'étendant à la face dorsale des mains, des pieds et/ou des poignets et touchant la peau au niveau du tendon d'Achille (transgrediens), s'aggravant progressivement avec l'âge (progrediens) et évolue vers une hyperkératose localisée sur les tibias, les genoux, les coudes et, parfois, les plis cutanés. Elle est généralement associée à une hyperhidrose. L'examen histologique permet d'observer des lésions épidermolytiques ou non épidermolytiques."},"de":{"name":"Keratoderma palmoplantaris transgrediens et progrediens","synonyms":["Diffuse palmoplantare progressive Hyperkeratose","Greither-Syndrom","Keratosis extremitatum hereditaria progrediens","PPK, diffuse progressive"],"definition":"Eine seltene, isolierte, diffuse Palmoplantarkeratose, die durch eine rot-gelbe, mäßige bis schwere Hyperkeratose der Handflächen und Fußsohlen gekennzeichnet ist, die sich auf die dorsalen Seiten der Hände, Füße und/oder Handgelenke ausdehnt und die Haut über der Achillessehne (transgrediens) mit einbezieht, die sich mit zunehmendem Alter allmählich verschlimmert (progrediens) und eine fleckige Hyperkeratose über den Schienbeinen, Knien, Ellenbogen und manchmal den Hautbeugen einschließt. Eine Hyperhidrose ist in der Regel assoziiert. Histologisch können entweder epidermolytische oder nicht-epidermolytische Veränderungen zu sehen sein."},"es":{"name":"Queratodermia palmoplantar transgrediens y progrediens","synonyms":["Enfermedad de Greither","PPK difusa progresiva","PPK transgrediens y progrediens","Queratodermia palmoplantar difusa progresiva","Queratosis palmoplantar transgrediens y progrediens","Queratosis progrediens hereditaria de las extremidades"],"definition":"Es una queratodermia palmoplantar difusa, aislada y poco frecuente, caracterizada por hiperqueratosis palmoplantar moderada a grave, de color amarillento-rojizo, que se extiende hasta la parte dorsal de las manos, los pies y/o las muñecas afectando también a la piel sobre el tendón de Aquiles (transgrediens), empeorando gradualmente con la edad (progrediens) para incluir hiperqueratosis irregular sobre las espinillas, rodillas, codos y, en ocasiones las zonas de flexión de la piel. Suele asociar hiperhidrosis. Histológicamente pueden observarse cambios epidermolíticos o no epidermolíticos."},"it":{"name":"Cheratoderma palmoplantare transgrediens e progrediens","synonyms":["Cheratoderma palmoplantare diffuso progressivo","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Malattia di Greither","PPK diffuso progressivo","PPK transgrediens e progrediens"],"definition":"Si tratta di un cheratoderma palmoplantare diffuso isolato raro, caratterizzato da ipercheratosi moderata-grave di colore rosso-giallo localizzata sul palmo delle mani e sulla pianta dei piedi, che si estende sul dorso delle mani, dei piedi e/o dei polsi, con interessamento della cute in corrispondenza del tendine d'Achille (transgrediens). La malattia si aggrava gradualmente con l'età (progrediens), fino a comprendere l'ipercheratosi a chiazze a livello delle tibie, delle ginocchia e, talvolta, della cute delle regioni flessorie. Di solito si associa a iperidrosi. L'esame istologico evidenzia alterazioni epidermolitiche o non epidermolitiche."},"nl":{"name":"Palmoplantaire keratoderma transgrediens en progrediens","synonyms":["Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Progressieve diffuse PPK","Progressieve diffuse keratoderma van handpalm of voetzool","Progressieve diffuse palmoplantaire keratodermie","Transgrediens et progrediens PPK","Ziekte van Greither"],"definition":"Een zeldzame, geïsoleerde, diffuse palmoplantaire keratodermie gekarakteriseerd door rood-gele, matige tot ernstige hyperkeratose van de handpalmen en voetzolen met uitbreiding naar de dorsale delen van de handen, voeten en/of polsen en met betrokkenheid van de huid over de achillespees (transgrediens), en graduele escalatie met de leeftijd (progrediens) tot fragmentarische hyperkeratose op de schenen, knieën, ellebogen en, soms, huidplooien. Hyperhidrose is meestal geassocieerd. Histologisch kunnen epidermolytische of niet-epidermolytische veranderingen waargenomen worden."},"pt":{"name":"Queratodermia palmoplantar transgrediens et progrediens","synonyms":["Mal de Meleda"]},"pl":{"name":"Rogowiec dłoniowo - podeszwowy z tendencją do transgrediencji i progrediencji","synonyms":["Choroba Greithera","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Postępujący rozlany PPK","Postępujący rozlany rogowiec dłoni i stóp","PPK z tendencją do transgrediencji i progrediencji"]},"cs":{"name":"Transgredientní a progredientní palmoplantární keratoderma","synonyms":["Greitherova choroba","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Progresivní difuzní PPK","Progresivní difuzní palmoplantární keratoderma","Transgredientní a progredientní PPK"]},"uk":{"name":"Трансгресивна та прогресуюча долонно-підошвова кератодермія","synonyms":["Хвороба Гретера","Спадковий екстремальний прогресуючий кератоз","Кератоз долонь трансгредиентний та прогредиентний","Прогресуюча дифузна долонно-підошовна кератодермія","Прогресивна дифузна ППК","Transgrediens et progrediens PPK"],"definition":"A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen."},"zh":{"name":"掌跖角化病","synonyms":["逾越型和进育型掌跖角化病"]},"tr":{"name":"Transgrediens et progrediens palmoplantar keratoderma","synonyms":["Greither hastalığı","ilerleyici yaygın PPK","Transgrediens ve progrediens PPK","İlerleyici yaygın palmoplantar keratoderma","Keratosis ekstremitatum hereditaria progrediens","Keratoz palmoplantaris transgrediens ve progrediens"]}},"xrefs":[{"source":"OMIM","code":"133200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.30","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851480","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3096","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98349,"name":"Autosomal dominant isolated diffuse palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"8274799[PMID]_10738633[PMID]_16227096[PMID]_32864403[PMID]_Iranian Journal of Dermatology[OTHER]_International Journal of Advances in Medicine(IJAM)[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8274799[PMID]_10738633[PMID]_16227096[PMID]_32864403[PMID]_Iranian Journal of Dermatology[OTHER]_International Journal of Advances in Medicine (IJAM)[OTHER]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-29","source":"31911611[PMID]","terms":[{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030318","label":"Angular cheilitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007404","label":"Nonepidermolytic palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005406","label":"Recurrent bacterial skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011370","label":"Recurrent cutaneous fungal infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031452","label":"Lichenoid skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Occasional (29-5%)","criteria":null}]}}