{"orpha":69745,"name":"Warty dyskeratoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Follicular dyskeratoma"],"definition":"A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69745/","orphanet_url":"https://www.orpha.net/en/disease/detail/69745","names":{"fr":{"name":"Dyskératome verruqueux","synonyms":["Dyskératome folliculaire"],"definition":"Maladie rare de la peau d'évolution bénigne caractérisée par une papule ou un nodule solitaire, asymptomatique, verruqueux, de couleur chair ou brun-rouge, prenant la forme d'une ombilication centrale dotée d'un bouchon kératosique, apparaissant le plus souvent sur le cuir chevelu, le visage et le cou (rarement, dans la bouche, sous la tablette unguéale ou sur le mont du pubis). Dans certains cas, les lésions peuvent être multiples et/ou prurigineuses. L'examen histologique met en évidence une invagination bien circonscrite, cupuliforme, remplie de kératine, avec une dyskératose acantholytique proéminente, des fentes suprabasales et des villosités faisant saillie dans les fentes."},"de":{"name":"Dyskeratom, warziges","synonyms":["Dyskeratosis follicularis isolata"],"definition":"Eine seltene, gutartige Erkrankung der Epidermis, die durch das Vorhandensein einer einzelnen, asymptomatischen, warzigen, hautfarbenen oder rotbraunen Papel oder eines Knötchens mit einer zentralen Pore und einem keratotischen Fleck gekennzeichnet ist und sich gewöhnlich auf der Kopfhaut, im Gesicht oder am Hals befindet (selten in der Mundhöhle, unter der Nagelplatte oder am Schamhügel). Gelegentlich können die Läsionen multipel und/oder pruriginös sein. Histologische Untersuchungen zeigen eine gut umschriebene, becherförmige, keratingefüllte Inagination mit ausgeprägter akantholytischer Dyskeratose, suprabasilären Spalten und in die Spalten hineinragenden Zotte."},"es":{"name":"Disqueratoma verrucoso","synonyms":["Disqueratoma folicular"],"definition":"Es una enfermedad epidérmica benigna y poco frecuente caracterizada por una pápula o nódulo aislado asintomático, verrucoso y del color de la piel a marrón rojizo, que contiene un poro central y un tapón queratósico que se desarrolla con mayor frecuencia en el cuero cabelludo, la cara y el cuello (excepcionalmente, en la boca, debajo de la placa ungueal o en el pubis). En ciertas ocasiones, las lesiones pueden ser múltiples y/o pruriginosas. Histológicamente, se observa una invaginación bien delimitada, en forma de copa, rellena de queratina, con disqueratosis acantolítica prominente, hendiduras suprabasales y vellosidades que protruyen hacia las hendiduras."},"it":{"name":"Discheratoma verrucoso","synonyms":["Discheratoma follicolare"],"definition":"È una malattia benigna rara dell'epidermide, caratterizzata dalla presenza di una papula o un nodulo solitario asintomatico, verrucoso, dello stesso colore della cute o rosso-bruno, contenente un poro centrale e una chiazza cheratosica, di solito localizzato sul cuoio capelluto, sul viso o sul collo (raramente nel cavo orale, sotto la lamina dell'unghia o sul monte del pube). Occasionalmente, le lesioni possono essere multiple e/o pruriginose. Gli esami istologici evidenziano un'invaginazione circoscritta, a forma di coppa, contenente cheratina, con marcata discheratosi acantolitica, schisi soprabasilari e villi protrudenti nelle schisi."},"nl":{"name":"Wratachtig dyskeratoom","synonyms":["Folliculair dyskeratoom"],"definition":"Een zeldzame, goedaardige, epidermale ziekte gekarakteriseerd door een solitaire, asymptomatische, verruceuze, huidkleurige tot rood-bruine papel of nodulus die een centrale porie en keratotische prop bevat, en meestal voorkomt op de hoofdhuid, het gelaat en de nek/hals (zelden in de mond, onder de nagelplaat of op de mons pubis (venusheuvel)). Occasioneel kunnen de letsels meervoudig en/of pruritisch zijn. Histologisch wordt een goed begrensde, bekervormige, met keratine gevulde instulping, met duidelijke acantholytische dyskeratose, suprabasale kloven en villi die uitpuilen in de kloven waargenomen."},"pt":{"name":"Disqueratoma verrugoso","synonyms":["Disqueratoma folicular"]},"pl":{"name":"Dyskeratoma brodawkowata","synonyms":["Dyskeratoma pęcherzykowa"]},"cs":{"name":"Bradavčitý dyskeratom","synonyms":["Folikulární dyskeratom","Solitární m. Darier"]},"uk":{"name":"Бородавчаста дискератома","synonyms":["Фолікулярна дискератома"],"definition":"A rare, benign, epidermal disease characterized by a solitary, asymptomatic, verrucous, skin-coloured to red-brown papule or nodule, which contains a central pore and keratotic plug, occuring most frequently on the scalp, face and neck (rarely, in the mouth, under the nail plate or on the mons pubis). Occasionally, lesions may be multiple and/or pruritic. Histologically, a well-circumscribed, cup-shaped, keratin-filled invagination, with prominent acantholytic dyskeratosis, suprabasilar clefts and villi projecting into the clefts, is observed."},"zh":{"name":"疣性角化不良瘤","synonyms":["滤泡角膜瘤"]},"tr":{"name":"Siğilli diskeratom","synonyms":["Foliküler diskeratom"]}},"xrefs":[{"source":"ICD-10","code":"L85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1427186445"},{"source":"ICD-11","code":"XH65S7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"171852927"},{"source":"MONDO","code":"0019077","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0334063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-16","source":"28831426[PMID]_28326204[PMID]_32670533[PMID]","terms":[{"hpo":"HP:0031285","label":"Abnormal perifollicular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011368","label":"Epidermal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200016","label":"Acrokeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025512","label":"Skin-colored papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025103","label":"Umbilicated nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410340","label":"Focal epithelial hyperplasia of oral mucosa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031445","label":"Oral mucosa nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100737","label":"Abnormal hard palate morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006477","label":"Abnormality of the alveolar ridges","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012881","label":"Abnormality of the labia majora","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100648","label":"Neoplasm of the tongue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030416","label":"Vulvar neoplasm","frequency":"Very rare (<4-1%)","criteria":null}]}}