{"orpha":447961,"name":"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447961/","orphanet_url":"https://www.orpha.net/en/disease/detail/447961","names":{"fr":{"name":"Syndrome d'anomalie de pigmentation-kératodermie palmoplantaire-carcinome de la peau","definition":"Maladie génétique de la peau caractérisée par l'apparition infantile d'une alopécie diffuse, d'une pigmentation cutanée anormale (macules hypo- et hyperpigmentées du tronc et du visage et zones d'hypo- et d'hyperpigmentation réticulaire des membres), d'une kératodermie palmoplantaire et d'une dystrophie unguéale. Les patients développent des carcinomes spinocellulaires récurrents plus tard dans leur vie. La littérature fait également mention de dents ébréchées, à l'origine d'une perte précoce de la dentition."},"de":{"name":"Pigmentierungsdefekte-Palmoplantarkeratose-Hautkarzinom-Syndrom","definition":"Eine seltene genetische Hauterkrankung, die sich im Kindesalter manifestiert und durch diffuse Alopezie, abnorme Hautpigmentierung (hypo- und hyperpigmentierte Flecken an Stamm und Gesicht sowie retikuläre hypo- und hyperpigmentierte Areale an den Extremitäten), Palmoplantarkeratosen und Nageldystrophie gekennzeichnet ist. Die Patienten entwickeln im späteren Leben rezidivierende spinozelluläre Karzinome. Es wurde auch von brüchigen Zähnen berichtet, die zu frühzeitigem Zahnverlust führen."},"es":{"name":"Síndrome de defectos de la pigmentación-queratodermia palmoplantar-carcinoma cutáneo","definition":"Es una enfermedad de base genética y poco frecuente de la piel caracterizada por la aparición en la lactancia de alopecia difusa, anomalías pigmentarias (máculas hipo- e hiperpigmentadas en el tronco y la cara y áreas de hipo- e hiperpigmentación reticular en las extremidades), queratodermia palmoplantar y distrofia ungueal. Los pacientes desarrollan carcinomas espinocelulares recurrentes con posterioridad. También se ha descrito la presencia de dientes quebradizos que provocan la pérdida precoz de la dentición."},"it":{"name":"Sindrome difetti della pigmentazione-cheratoderma palmoplantare-carcinoma cutaneo","definition":"Si tratta di una malattia genetica rara della cute, che esordisce nella prima infanzia con alopecia diffusa, anomalie della pigmentazione della cute (macchie ipo- e iperpigmentate localizzate sul tronco e sul viso, e aree reticolate ipo- e iperpigmentate sugli arti), cheratoderma palmoplantare e distrofia ungueale. Successivamente i pazienti sviluppano carcinomi spinocellulari ricorrenti. La malattia può associarsi alla fragilità dentale, con conseguente perdita precoce dei denti."},"nl":{"name":"Pigmentatiedefecten - palmoplantaire keratodermie - huidcarcinoom-syndroom","definition":"Een zeldzame, genetische aandoening van huid, gekarakteriseerd door infantiele aanvang van diffuse alopecie, abnormale huidpigmentatie (hypo- en hypergepigmenteerde maculae van romp en aangezicht en gebieden van reticulaire hypo- en hyperpigmentatie van ledematen), palmoplantaire keratodermie, en nageldystrofie. Op latere leeftijd ontwikkelen patiënten recidiverende plaveiselcelcarcinomen. Broze tanden resulterend in vroeg verlies van tanden werd ook reeds beschreven."},"pt":{"name":"Síndrome de defeitos de pigmentação-queratodermia palmoplantar-carcinoma cutâneo"},"pl":{"name":"Zespół defektu pigmentacji, rogowca dłoniowo-podeszwowego i nowotworu skóry"},"cs":{"name":"Syndrom zahrnující poruchy pigmentace, palmoplantární keratoderma a karcinom kůže"},"uk":{"name":"Синдром дефектів пігментації-долонно-підошовної кератодермії-карциноми шкіри","definition":"A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described."},"zh":{"name":"色素沉着-掌跖角化-皮肤癌综合征"},"tr":{"name":"Pigmentasyon defektleri-palmoplantar keratoderma-cilt karsinom sendromu"}},"xrefs":[{"source":"OMIM","code":"618373","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681108","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":183463,"name":"Genetic pigmentation anomaly of the skin","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":79374,"name":"Pigmentation anomaly of the skin","classifications":[187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":77830,"name":"Rare genetic odontologic disease","classifications":[156]}],"children":[],"genes":[{"symbol":"SASH1","name":"SAM and SH3 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25315659[PMID]","hgnc":"19182","ensembl":"ENSG00000111961","omim":"607955","loci":["6q24.3-q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25315659[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25315659[PMID]"}],"phenotypes":null}