{"orpha":79414,"name":"Woolly hair nevus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Wooly hair nevus"],"definition":"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79414/","orphanet_url":"https://www.orpha.net/en/disease/detail/79414","names":{"fr":{"name":"Cheveux laineux sur naevus","definition":"Anomalie des cheveux non familiale rare, caractérisée par des cheveux fins, crépus, difficiles à coiffer et hypopigmentés d'un diamètre moyen de 0,5&nbsp;cm, observée à la naissance ou au cours des deux premières années de vie, dans une zone circonscrite du cuir chevelu. Dans de rares cas, l'anomalie touche des zones considérées comme alopéciques pendant la période néonatale. Elle peut être associée à des anomalies oculaires (persistance de la membrane pupillaire, anomalies rétiniennes), une puberté précoce et des naevus épidermiques."},"de":{"name":"Wollhaarnaevus"},"es":{"name":"Nevo de cabello lanoso","synonyms":["Nevo de pelo lanoso"],"definition":"Es un proceso no familiar poco frecuente del tallo piloso caracterizado por un cabello fino, rizado, ensortijado e hipopigmentado, de un diámetro medio de 0,5 mm, localizado en una área circunscrita del cuero cabelludo presente en el nacimiento o de aparición durante los dos primeros años de vida. Ocasionalmente, puede presentarse en áreas inicialmente alopécicas en el período neonatal. Puede asociarse a alteraciones oculares (membrana pupilar persistente, defectos retinianos), pubertad precoz y nevos epidérmicos."},"it":{"name":"Nevo con capelli lanosi","definition":"Il nevo con capelli lanosi (WHN) è un'anomalia rara non ereditaria dei capelli, caratterizzata da capelli sottili, crespi, molto ricci e ipopigmentati, del diametro medio di 0,5 cm, presente alla nascita o che compare nei primi due anni di vita, presente in forma circoscritta e localizzata sul cuoio capelluto. Raramente, il nevo a capelli lanosi cresce in aree alopeciche nel periodo neonatale. Può associarsi a difetti oculari (persistenza della membrana pupillare, difetti della retina), pubertà precoce e nevi epidermici."},"nl":{"name":"Wollig haar-naevus","definition":"Wollig haar-naevus (WHN) is een zeldzame niet-familiale haaranomalie die gekarakteriseerd wordt door krullig, strak opgerold en gehypopigmenteerd fijn haar met een gemiddelde diameter van 0,5 cm, dat vanaf de geboorte of tijdens de eerste twee levensjaren verschijnt in een plaatselijke, begrensde distributie op de hoofdhuid. Soms groeit WHN in zones die alopecisch waren in de neonatale periode. WHN kan geassocieerd zijn met kenmerken zoals oculaire defecten (persisterend pupillair membraan, retinale defecten), vroegtijdige puberteit, en epidermale naevi."},"pt":{"name":"Nevo piloso lanoso"},"pl":{"name":"Znamię z włosami wełnistymi","synonyms":["Wooly hair nevus"]},"cs":{"name":"Névus s rounovitými vlasy","synonyms":["Lokalizovaná forma rounovitých vlasů"]},"uk":{"name":"Шерстистий волосяний невус","synonyms":["Шерстистий волосяний невус"],"definition":"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi."},"zh":{"name":"羊毛状发痣","synonyms":["羊毛状发痣"]},"tr":{"name":"Kıllı saç nevüsü","synonyms":["Kıllı saçlı nevüsü"]}},"xrefs":[{"source":"OMIM","code":"162900","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"645879297"},{"source":"MONDO","code":"0019311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343114","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79366,"name":"Isolated hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"HRAS","name":"HRas proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"24129065[PMID]","hgnc":"5173","ensembl":"ENSG00000174775","omim":"190020","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24129065[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24129065[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-08","source":"32155026[PMID]_24261737[PMID]_26622156[PMID]_23621149[PMID]_29267480[PMID]_20464096[PMID]_34601768[PMID]_24129065[PMID]","terms":[{"hpo":"HP:0002212","label":"Curly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011365","label":"Patchy hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040149","label":"Woolly scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007534","label":"Congenital posterior occipital alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034275","label":"Verrucous epidermal nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011387","label":"Enlarged vestibular aqueduct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009917","label":"Persistent pupillary membrane","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006304","label":"Widely-spaced incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null}]}}