{"orpha":2337,"name":"Diffuse palmoplantar keratoderma, Bothnian type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diffuse palmoplantar keratoderma, Bothnia type","NEPPK, Bothnia type","NEPPK, Bothnian type"],"definition":"A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2337/","orphanet_url":"https://www.orpha.net/en/disease/detail/2337","names":{"fr":{"name":"Kératodermie palmoplantaire diffuse type Botnien","synonyms":["KPP non épidermolytique type Botnien"],"definition":"Kératodermie palmoplantaire diffuse isolée rare caractérisée par une hyperkératose palmoplantaire diffuse, homogène, légère à épaisse, de couleur brune à jaunâtre (s'étendant parfois à la face dorsale des doigts). La biopsie cutanée révèle des lésions non épidermolytiques. Aucune altération des cheveux, des dents ou des ongles, ni aucune atteinte syndromique d'autres organes n'est observée."},"de":{"name":"Diffuse Palmoplantarkeratose vom Bottnischen Typ","synonyms":["Diffuse Palmoplantarkeratodermie, Bottnischer Typ","Keratosis palmoplantaris Typ Bottnien","NEPPK Typ Bottnien","Palmoplantarkeratose, aquagene diffuse, durch AQP5-Genmutation"],"definition":"Eine seltene isolierte Palmoplantarkeratose, die durch eine diffuse, homogene, milde bis dicke, gelbliche palmoplantare Hyperkeratose gekennzeichnet ist, die sich manchmal über den dorsalen Aspekt der Finger ausbreitet. Die Hautbiopsie zeigt nicht-epidermolytische Veränderungen. Es gibt keine Veränderungen an Haaren, Zähnen oder Nägeln und keine syndromale Beteiligung anderer Organe."},"es":{"name":"Queratodermia palmoplantar difusa tipo Botnia","synonyms":["NEPPK tipo Botnia"],"definition":"Es una queratodermia palmoplantar difusa aislada y poco frecuente caracterizada por hiperqueratosis palmoplantar difusa, homogénea, de moderada a gruesa, de aspecto parduzco a amarillento (en ocasiones se extiende sobre la cara dorsal de los dedos). La biopsia de piel muestra cambios no epidermolíticos. No hay cambios en el pelo, dientes o uñas, ni afectación sindrómica de otros órganos."},"it":{"name":"Cheratoderma palmoplantare diffuso tipo botniano","synonyms":["Cheratoderma palmoplantare diffuso tipo Botnia","NEPPK tipo Botnia","NEPPK tipo botniano"],"definition":"Si tratta di un cheratoderma palmoplantare diffuso isolato raro, caratterizzato da ipercheratosi palmoplantare diffusa, omogenea, da lieve a spessa, di colore giallastro, che talvolta si estende fino al dorso delle dita delle mani. Se esposta al contatto con l'acqua, assume un aspetto spugnoso, e spesso si associa a dermatofitosi. Di solito i pazienti presentano iperidrosi. La biopsia della cute evidenzia alterazioni non epidermolitiche."},"nl":{"name":"Diffuse palmoplantaire keratodermie, Botnisch type","synonyms":["Diffuse palmoplantaire keratodermie, Botnië-type","NEPPK, Botnisch type","NEPPK, Botnië-type"],"definition":"Een zeldzame geïsoleerde diffuse palmoplantaire keratodermie, gekenmerkt door diffuse, homogene, milde tot dikke, bruin tot gelige palmoplantaire hyperkeratose (soms met verspreiding naar de dorsale zijde van vingers). Huidbiopsie toont niet-epidermolytische veranderingen. Er zijn geen veranderingen aan haar, tanden of nagels, en geen syndromale betrokkenheid van andere organen."},"pt":{"name":"Queratodermia palmoplantar difusa, tipo Bothniana","synonyms":["NEPPK, tipo Bothnia","NEPPK, tipo Bothniana","Queratodermia palmoplantar difusa, tipo Bothnia"],"definition":"Queratodermia palmoplantar difusa isolada rara caracterizada por hiperqueratose palmoplantar difusa, homogénea, leve a espessa, castanha a amarelada (às vezes espalhando-se pelo aspecto dorsal dos dedos). A biópsia de pele mostra alterações não epidermolíticas. Não há alterações em cabelos, dentes ou unhas, e nenhum envolvimento sindrómico de outros órgãos."},"pl":{"name":"Rogowiec dłoni i stóp odmiana nieepidermolityczna","synonyms":["NEPPK","Rozlany rogowiec dłoniowo-podeszwowy, typ botnicki","Autosomalny dominujący rozlany rogowiec dłoni i stóp, typ Norrbotten","Rozlany rogowiec dłoniowo-podeszwowy typu botnickiego"]},"cs":{"name":"Non-epidermolytická palmoplantární keratoderma","synonyms":["NEPPK","Autozomálně dominantní difuzní palmoplantární keratoderma"]},"uk":{"name":"Дифузна долонно-підошовна кератодермія, тип Ботніана","synonyms":["Дифузна долонно-підошовна кератодермія, тип Ботніа","NEPPK, тип Ботнія","NEPPK, ботнійський тип"],"definition":"A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs."},"zh":{"name":"非表皮松解掌跖角化病","synonyms":["常染色体显性遗传弥漫性掌跖角化病Norrbotten型"]},"tr":{"name":"Epidermolitik olmayan palmoplantar keratoderma","synonyms":["NEPPK","Yaygın palmoplantar keratoderma, Bothnian tipi","Otozomal dominant Yaygın palmoplantar keratoderma, Norrbotten tipi"]}},"xrefs":[{"source":"OMIM","code":"600231","qualifier":"E","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":"index","validated":true,"icd11_uri":"1481454585"},{"source":"MONDO","code":"0010849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1862","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":[{"symbol":"AQP5","name":"aquaporin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23830519[PMID]","hgnc":"638","ensembl":"ENSG00000161798","omim":"600442","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"30144154[PMID]_27255181[PMID]_23867895[PMID]_35014096[PMID]_36553627[PMID]","terms":[{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032259","label":"Chronic tinea infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032541","label":"Knuckle pad","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Occasional (29-5%)","criteria":null}]}}