{"orpha":409,"name":"Hyperkeratosis lenticularis perstans","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Flegel disease"],"definition":"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-409/","orphanet_url":"https://www.orpha.net/en/disease/detail/409","names":{"fr":{"name":"Hyperkératose lenticulaire persistante","synonyms":["Maladie de Flegel"],"definition":"Maladie rare de la peau caractérisée par des papules hyperkératosiques, de couleur rouge-brunâtre, généralement asymptomatiques, situées principalement sur les membres inférieurs. L'examen histologique montre une hyperkératose lamellaire avec une orthokératose périphérique abrupte en « panier d'osier », une acanthose irrégulière et un infiltrat lymphocytaire lichénoïde sous-jacent. La maladie peut être sporadique ou familiale."},"de":{"name":"Hyperkeratosis lenticularis perstans","synonyms":["Morbus Flegel"],"definition":"Eine seltene Hauterkrankung, die durch meist asymptomatische, hyperkeratotische, rötlich-braune Papeln gekennzeichnet ist, die vor allem an den unteren Extremitäten auftreten. Die histologische Untersuchung zeigt eine lamelläre Hyperkeratose mit abrupter peripherer korbförmiger Orthokeratose, unregelmäßiger Akanthose und einem darunter liegenden lichenoiden lymphozytären Infiltrat. Die Erkrankung kann sporadisch auftreten oder familiär bedingt sein."},"es":{"name":"Hiperqueratosis lenticularis persistans","synonyms":["Enfermedad de Flegel"],"definition":"Es una enfermedad cutánea poco frecuente caracterizada por unas pápulas hiperqueratósicas de color marrón rojizo, generalmente asintomáticas, localizadas principalmente en las extremidades inferiores. El examen histológico muestra una hiperqueratosis lamelar con ortoqueratosis periférica abrupta simulando una disposición en cesta entretejida, una acantosis irregular y un infiltrado linfocitario liquenoide subyacente. La entidad puede ser esporádica o familiar."},"it":{"name":"Ipercheratosi lenticolare persistente","synonyms":["Malattia di Flegel"],"definition":"Si tratta di una malattia rara della cute, caratterizzata da papule di solito asintomatiche, ipercheratosiche, bruno-rossastre, localizzate soprattutto sugli arti inferiori. L'esame istologico mostra ipercheratosi lamellare con ortocheratosi periferica a trama di canestro, acantosi irregolare e infiltrato linfocitario lichenoide. La malattia può essere sporadica o familiare."},"nl":{"name":"Hyperkeratosis lenticularis perstans","synonyms":["Ziekte van Flegel"],"definition":"Een zeldzame aandoening van huid, gekarakteriseerd door meestal asymptomatische, hyperkeratotische, rood-bruine papels, voornamelijk gesitueerd op onderste ledematen. Histologisch onderzoek toont lamellaire hyperkeratose met abrupte perifere 'basket-weave' orthokeratose, onregelmatige acanthose, en onderliggend lichenoïd lymfocytisch infiltraat. De aandoening kan sporadisch of familiaal voorkomen."},"pt":{"name":"Hiperqueratose lenticular persistente","synonyms":["Doença de Flegel"]},"pl":{"name":"Hiperkeratoza soczewkowata trwała","synonyms":["Choroba Flegela"]},"cs":{"name":"Hyperkeratosis lenticularis perstans","synonyms":["Flegelova choroba"]},"uk":{"name":"Стійкий лентикулярний гіперкератоз","synonyms":["Хвороба Флегеля"],"definition":"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial."},"zh":{"name":"持久性豆状角化过度症","synonyms":["Flegel病"]},"tr":{"name":"Hiperkeratoz lenticularis perstans","synonyms":["Flegel hastalığı"]}},"xrefs":[{"source":"OMIM","code":"144150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"932302493"},{"source":"MONDO","code":"0007756","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538377","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263420","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071311","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]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007570","label":"Hyperkeratosis lenticularis perstans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","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:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}