{"orpha":444138,"name":"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PLACK syndrome"],"definition":"A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444138/","orphanet_url":"https://www.orpha.net/en/disease/detail/444138","names":{"fr":{"name":"Syndrome de peau déciduale-leuconychie-kératose acrale ponctuée-chéilite-nodosités calleuses","synonyms":["Syndrome PLACK"],"definition":"Maladie dermatologique rare d'origine génétique caractérisée par une desquamation généralisée de la peau ou des cloques superficielles sans cicatrices, une leuconychie, des kératoses acrales ponctuées donnant lieu à une kératodermie de distribution focale siégeant aux points d'appui, une chéilite angulaire douloureuse et des coussinets des phalanges (coussinets de Garrod) présentant de multiples micropapules hyperkératosiques. La peau présente un aspect sec et squameux, avec une exfoliation superficielle faisant apparaître un érythème. L'examen histopathologique des zones cutanées affectées n'est pas spécifique ; il met en évidence une hyperkératose, une acanthose et parfois une acantholyse intra-épidermique avec formation de fentes qui s'étendent de façon irrégulière."},"de":{"name":"Hautablösung-Leukonychie-akral punktierte Keratosen-Cheilitis-Fingerknöchelpolster-Syndrom","synonyms":["PLACK-Syndrom"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, die durch generalisiertes Hautpeeling, Leukonychien, akrale punktförmige Keratosen, die sich an den gewichtstragenden Stellen zu fokalen Keratodermien zusammenschließen, schmerzhaften Cheilitis quadratica und Knöchelballen mit multiplen hyperkeratotischen Mikropapeln gekennzeichnet ist. Die Haut erscheint trocken und schuppig mit oberflächlicher Exfoliation und darunter liegendem Erythem. Die histopathologische Untersuchung der betroffenen Hautareale ist unspezifisch und zeigt Hyperkeratose, Akanthose und gelegentlich intraepidermale Spaltbildungen mit unregelmäßiger Akantholyse."},"es":{"name":"Síndrome de descamación cutánea-leuconiquia-queratosis punctata acral-queilitis-almohadillas de nudillo","synonyms":["Síndrome PLACK"],"definition":"Es una enfermedad de la piel poco frecuente y de origen genético caracterizada por descamación cutánea generalizada o ampollas superficiales sin cicatrización, leuconiquia, queratosis puntiforme acral que confluye en queratodermia focal que afecta a las áreas sometidas a presión, queilitis angular dolorosa y almohadillas de nudillos con múltiples micropápulas hiperqueratósicas. La piel presenta una apariencia seca y descamativa con exfoliación superficial y eritema subyacente. El examen histopatológico de las áreas cutáneas afectadas es inespecífico y muestra hiperqueratosis, acantosis y hendiduras intraepidérmicas ocasionales con acantólisis irregular."},"it":{"name":"Sindrome desquamazione cutanea-leuconichia-cheratosi puntata acrale-cheilite-nocche imbottite","synonyms":["Sindrome PLACK"],"definition":"Si tratta di una malattia genetica rara della cute, caratterizzata da desquamazione generalizzata della cute, leuconichia, cheratosi puntata acrale che confluisce in un cheratoderma focale sulle zone sottoposte a carico, cheilite angolare e nocche imbottite, con micropapule ipercheratosiche multiple. La cute è secca e desquamata, con esfoliazione superficiale ed eritema sottostante. L'esame istopatologico della cute interessata evidenzia ipercheratosi, acantosi e schisi intraepidermica con acantolisi irregolare. Non si osservano anomalie sistemiche."},"nl":{"name":"Afschilferende huid - leukonychie - acrale puntvormige keratoses - cheilitis - knokkelkussentjes-syndroom","synonyms":["PLACK-syndroom"],"definition":"Een zeldzame, genetische aandoening van huid, gekenmerkt door gegeneraliseerde afschilfering van huid of oppervlakkige blaren zonder littekenvorming, leukonychie, meervoudige acrale keratosis punctata die samenvloeit tot focale keratodermie op gewichtsdragende gebieden, pijnlijke cheilitis angularis, en knokkelkussentjes met multipele hyperkeratotische micropapels. De huid lijkt droog en schilferig met oppervlakkige exfoliatie en onderliggend erytheem. Histopathologisch onderzoek van aangetaste delen van de huid is niet specifiek en toont hyperkeratose, acanthose, en occasioneel intra-epidermale schisis met onregelmatige acantholyse."},"pt":{"name":"Síndrome de pele descamativa-leuconíquia-queratoses punctiformes acrais-queilite-lesões cutâneas nas articulações das mãos","definition":"Doença genética rara da pele caracterizada por descamação generalizada da pele ou bolhas superficiais sem cicatrizes, leuconíquia, queratoses punctiformes acrais que coalescem em queratodermia focal nas áreas de sustentação do peso, queilite angular dolorosa e almofadas dos dedos com múltiplas micropápulas hiperqueratóticas. A pele parece seca e escamosa com esfoliação superficial e eritema subjacente. O exame histopatológico das áreas afetadas da pele não é específico e mostra hiperqueratose, acantose e fissuras intraepidérmicas ocasionais com acantólise irregular."},"pl":{"name":"Zespół złuszczającej się skóry, leukoonychii, punktowej keratozy kończynowej, zapalenia warg i palców poduszeczkowatych","synonyms":["Zespół plACK"]},"cs":{"name":"Syndrom zahrnující olupování kůže, leukonychii, akrální tečkovanou keratózu, cheilitidu a Garrodovy uzly","synonyms":["PLACK syndrom"]},"uk":{"name":"Синдром лущення шкіри-лейконіхії-акрального точкового кератозу-хейліту-суглобових подушечок","synonyms":["Синдром PLACK"],"definition":"A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis."},"zh":{"name":"脱皮-白甲-肢端点状角化-唇炎-指节垫综合征 PLACK综合征","synonyms":["PLACK综合征"]},"tr":{"name":"Peeling cilt-lökonyak-akral noktalı keratozlar-cheilitis-knuckle pads sendromu","synonyms":["PLACK sendromu"]}},"xrefs":[{"source":"OMIM","code":"616295","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014574","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]},{"orpha":2338,"name":"Isolated punctate palmoplantar keratoderma","classifications":[156,187]}],"children":[],"genes":[{"symbol":"CAST","name":"calpastatin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25683118[PMID]","hgnc":"1515","ensembl":"ENSG00000153113","omim":"114090","loci":["5q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25683118[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25683118[PMID]"}],"phenotypes":null}