{"orpha":448264,"name":"Isolated focal non-epidermolytic palmoplantar keratoderma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448264/","orphanet_url":"https://www.orpha.net/en/disease/detail/448264","names":{"fr":{"name":"Kératodermie palmoplantaire focale non épidermolytique isolée","definition":"Kératodermie palmoplantaire héréditaire rare caractérisée par des lésions hyperkératosiques focales sur les paumes des mains et les plantes des pieds. L'examen histopathologique révèle une hyperkératose importante, une couche épineuse épaissie et une couche granuleuse amincie, une désadhésion des cellules dans les couches suprabasales, un allongement des crêtes épidermiques et une infiltration lymphocytaire éparse dans le derme."},"de":{"name":"Palmoplantarkeratose, isolierte fokale nichtepidermolytische","definition":"Eine seltene hereditäre Palmoplantarkeratose, die durch fokale hyperkeratotische Läsionen an den Handflächen und Fußsohlen gekennzeichnet ist. Die histopathologische Untersuchung zeigt eine ausgeprägte Hyperkeratose, ein verdicktes Stratum spinosum mit reduziertem Stratum granulosum, eine Desadhäsion der Zellen in den suprabasalen Schichten, eine Dehnung der Rete-Kämme und vereinzelte Lymphozyteninfiltration in der Dermis."},"es":{"name":"Queratodermia palmoplantar no epidermolítica focal aislada","definition":"Es una queratodermia palmoplantar hereditaria poco frecuente caracterizada por lesiones hiperqueratósicas focales en palmas y plantas. El examen histopatológico revela hiperqueratosis prominente, engrosamiento del estrato espinoso engrosado con adelgazamiento del estrato granuloso, desadhesión celular en las capas suprabasales, elongación de las crestas epiteliales y escasa infiltración de linfocitos en la dermis."},"it":{"name":"Cheratoderma palmoplantare non epidermolitico focale isolato","definition":"Si tratta di un cheratoderma palmoplantare ereditario raro, caratterizzato da lesioni ipercheratosiche focali sul palmo delle mani e sulla pianta dei piedi. L'esame istopatologico evidenzia ipercheratosi marcata, ispessimento dello strato spinoso con riduzione dello strato granuloso, mancata adesione delle cellule negli strati soprabasali, allungamento delle papille dermiche e scarsa infiltrazione di linfociti nel derma."},"nl":{"name":"Geïsoleerde focale niet-epidermolytische palmoplantaire keratodermie","definition":"Een zeldzame hereditaire palmoplantaire keratodermie, gekenmerkt door focale hyperkeratotische laesies op handpalmen en voetzolen. Histopathologisch onderzoek toont prominente hyperkeratose, verdikt stratum spinosum met gereduceerd stratum granulosum, geen adhesie tussen cellen in suprabasale lagen, elongatie van retelijsten, en schaarse infiltratie van lymfocyten in dermis."},"pt":{"name":"Queratodermia palmoplantar não-epidermolítica focal isolada"},"pl":{"name":"Ogniskowy rogowiec dłoni i stóp - odmiana nieepidermolityczna"},"cs":{"name":"Izolovaná fokální non-epidermolytická palmoplantární keratoderma"},"uk":{"name":"Ізольована фокальна неепідермолітична долонно-підошовна кератодермія","definition":"A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis."},"zh":{"name":"单发的局灶性非表皮溶解的掌跖角化病"},"tr":{"name":"İzole fokal epidermolitik olmayan palmoplantar keratoderma"}},"xrefs":[{"source":"OMIM","code":"613000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.31","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014622","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681107","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":307846,"name":"Isolated focal palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"TRPV3","name":"transient receptor potential cation channel subfamily V member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25285920[PMID]","hgnc":"18084","ensembl":"ENSG00000167723","omim":"607066","loci":["17p13.2"]},{"symbol":"KRT16","name":"keratin 16","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8595410[PMID]","hgnc":"6423","ensembl":"ENSG00000186832","omim":"148067","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25285920[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25285920[PMID]"}],"phenotypes":null}