{"orpha":210133,"name":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210133/","orphanet_url":"https://www.orpha.net/en/disease/detail/210133","names":{"fr":{"name":"Syndrome de leuconychie totale-lésions de type acanthosis nigricans-cheveux anormaux","definition":"Anomalie rare et syndromique des ongles caractérisée par l'association d'une leuconychie totale avec des lésions de type acanthosis-nigricans (survenant dans les régions du cou, des aisselles et de l'abdomen) et une dysplasie des cheveux, se manifestant par des cheveux secs et cassants révélant à la microscopie électronique un aspect irrégulier en torsades complètes ou incomplètes et une surface irrégulière avec des sillons longitudinaux."},"de":{"name":"Leukonychia totalis - Acanthosis-nigricans-artige Läsionen - Haarveränderungen"},"es":{"name":"Síndrome de leuconiquia total-lesiones tipo acantosis nigricans-cabello anómalo","definition":"Es un trastorno sindrómico y poco frecuente caracterizado por la asociación de una leuconiquia completa con lesiones tipo acantosis nigricans (que ocurren en el cuello, axilas y zonas del abdomen) así como con una displasia capilar que se manifiesta con un cabello seco y quebradizo y que presenta un patrón irregular de giros completos o incompletos, y una superficie irregular con surcos longitudinales en el examen con microscopía electrónica."},"it":{"name":"Sindrome leuconichia totale, lesioni simil- acanthosis nigricans ed anomalie dei capelli"},"nl":{"name":"Leukonychia totalis - acanthosis-nigricans-achtige laesies - abnormaal haar-syndroom","definition":"Leukonychia totalis - acanthosis-nigricans-achtige laesies - abnormaal haar-syndroom is een zeldzame, syndromale nagelanomalie, en wordt gekarakteriseerd door de associatie van leukonychia totalis met acanthosis-nigricans-achtige letsels (die voorkomen in de nek-, oksel- en buikstreek) en haardysplasie die zich manifesteert met droog, broos haar dat een onregelmatig patroon vertoont van volledige of onvolledige kronkels en een onregelmatig oppervlak met longitudinale groeven die kunnen waargenomen worden met elektronenmicroscopie."},"pt":{"name":"Leuconiquia total - lesões tipo acantose nigricans - anomalias dos pelos"},"pl":{"name":"Leukonychia całkowita - zmiany podobne do rogowacenia ciemnego - nieprawidłowe włosy"},"cs":{"name":"Syndrom zahrnující leukonychia totalis, léze podobné acanthosis nigricans a abnormální vlasy"},"uk":{"name":"Тотальна лейконіхія - acanthosis-nigricans-подібні ураження - синдром аномального волосся","definition":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy."},"zh":{"name":"全白甲-棘皮病-黑质样病变-头发异常综合症","definition":"全白甲-黑棘皮病样损害异常毛发综合症是一种罕见的综合征性指甲异常疾病，其主要临床表现为全白甲与黑棘皮病样损害（发生在颈部、腋窝和腹部）和毛发发育不良，具体表现为毛发干燥、易断，在电子显微镜下呈现完全或不完全扭转的不规则形状，表面不规则，有纵沟。"},"tr":{"name":"lökoniki totalis-akantoz-nigrikans benzeri lezyonlar-anormal saç sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC22.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016213","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"19401242[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19401242[PMID]"}],"phenotypes":null}