{"orpha":139414,"name":"Congenital panfollicular nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139414/","orphanet_url":"https://www.orpha.net/en/disease/detail/139414","names":{"fr":{"name":"Naevus panfolliculaire congénital","definition":"Tumeur rare et bénigne de la peau caractérisée par la présence de lésions cutanées congénitales de grande taille (quelques centimètres), en relief, bien circonscrites, de couleur rose-blanchâtre, multinodulaires, non ulcéreuses, à surface bosselée, situées sur le cou, le cuir chevelu ou les mains et qui s'étendent avec le temps. Sur le plan histologique, on observe une prolifération hamartomateuse contenant des follicules pileux malformés, disposés de manière irrégulière, à différents stades de développement, entourés de tissu fibreux et densément répartis dans le derme."},"de":{"name":"Naevus, panfollikulärer, kongenitaler"},"es":{"name":"Nevo panfolicular congénito","definition":"Es una patología tumoral cutánea benigna poco frecuente, caracterizada por la presencia de unas lesiones cutáneas multinodulares, con protuberancias en la superficie, no ulcerativas, de un tono rosado-pardo, circunscritas, sobreelevadas y grandes (unos pocos centímetros), ubicadas en el cuello, el cuero cabelludo o las manos y que se agrandan con el tiempo. Histológicamente, se observa una proliferación hamartomatosa que contiene unos folículos pilosos malformados en varias etapas de desarrollo y dispuestos irregularmente, rodeados de un tejido fibroso y distribuidos densamente en la dermis."},"it":{"name":"Nevo panfollicolare congenito","definition":"Il nevo panfollicolare congenito è una neoplasia benigna rara della cute, caratterizzata dalla presenza di lesioni cutanee congenite, di grandi dimensioni (alcuni centimetri), sollevate, ben delimitate, di colore rosa-beige, multinodulari, non ulcerose, con protuberanze superficiali, localizzate sul collo, sul cuoio capelluto o sulle mani, che nel tempo si ingrandiscono. Dal punto di vista istologico, si osserva una proliferazione amartomatosa contenente follicoli piliferi malformati, disposti in maniera irregolare, a diversi stadi di sviluppo, circondati da tessuto fibroso, distribuito densamente all'interno del derma."},"nl":{"name":"Congenitale panfolliculaire naevus","definition":"Congenitale panfolliculaire naevus is een zeldzame, goedaardige huidkanker die gekarakteriseerd wordt door de aanwezigheid van congenitale, grote (enkele centimeters), verheven, goed begrensde, roze-lichtbruine, multinodulaire, niet-ulceratieve huidletsels met een korrelig oppervlak die zijn gesitueerd op de nek/hals, hoofdhuid of handen en die mettertijd groter worden. Histologisch wordt hamartomateuze proliferatie waargenomen, bestaande uit onregelmatig geschikte, misvormde haarfollikels in verschillende ontwikkelingsstadia, omringd door fibreus weefsel en dicht op elkaar verspreid in de dermis."},"pt":{"name":"Nevo panfolicular congénito"},"pl":{"name":"Znamię wrodzone mieszków włosa","definition":"*Znamię wrodzone mieszków włosa jest rzadkim, łagodnym guzem skóry, który charakteryzuje się obecnością wrodzonych, dużych (o wielkości kilku centymetrów), wyniosłych, dobrze ograniczonych, różowo-brązowych, wieloguzkowych, niewrzodziejących zmian, które z czasem się powiększają, zlokalizowanych na pobrużdżonej powierzchni skóry szyi, głowy lub dłoni. Histologicznie stwierdza się proliferację o typie hamartoma, z nieregularnie ułożonymi, zniekształconymi mieszkami włosowymi w różnych stadiach rozwoju, otoczonymi tkanką włóknistą i gęsto rozmieszczonymi w skórze właściwej."},"cs":{"name":"Vrozený panfolikulární névus"},"uk":{"name":"Вроджений панфолікулярний невус","definition":"Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed."},"zh":{"name":"先天性panfollicular痣","definition":"先天性全滤泡性色素痣是一种罕见的良性皮肤肿瘤疾病，其特征是颈部、头皮或手部存在先天性、大（几厘米）、隆起、边界清楚、呈粉色至褐色、多结节、非溃疡性、表面凸出的皮肤病损，且随着时间的推移而扩大。组织学特征是含有不同发育阶段的不规则排列的畸形毛囊的错构瘤样增生，且被纤维组织包围，密集分布在真皮内。"},"tr":{"name":"Doğumsal panfoliküler nevüs"}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F20.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4476799","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26822169[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26822169[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-12","source":"15660657[PMID]_26822169[PMID]","terms":[{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012500","label":"Verrucous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Excluded (0%)","criteria":null}]}}