{"orpha":69125,"name":"Anonychia with flexural pigmentation","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69125/","orphanet_url":"https://www.orpha.net/en/disease/detail/69125","names":{"fr":{"name":"Syndrome d'anonychie-anomalies de la pigmentation des plis de flexion","definition":"Syndrome rare de dysplasie ectodermique caractérisé par une anonychie congénitale totale ou une dystrophie unguéale, une hyper- et/ou hypopigmentation maculaire (affectant particulièrement les plis axillaires et inguinaux et la zone sous les seins), des cheveux grossiers (qui deviennent nettement plus fins au début de la vie adulte), une sécheresse de la plante des pieds et de la paume des mains, une déformation des crêtes épidermiques, des plantes des pieds douloureuses et crevassées et par une hypohidrose. Aucun cas n'a été décrit dans la littérature depuis 1975."},"de":{"name":"Anonychie mit umschriebener Pigmentierung","definition":"Dieses Syndrom ist charakterisiert durch Anonychie und Hautanomalien (Hyper- und Hypopigmentierung der Axillen und der Leisten, trockene Haut der Handflächen und Fußsohlen, rissige und schmerzende Fußsohlen). Es wurde bei einer Mutter und ihren zwei Kindern beschrieben. Seit 1975 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Anoniquia con pigmentación de los pliegues de flexión","definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por anoniquia congénita total o uñas rudimentarias, hiper- e/o hipopigmentación macular (que afecta especialmente a las ingles, axilas y senos), cabello grueso (que disminuye notablemente de grosor en la edad adulta temprana), piel palmoplantar seca con crestas epidérmicas distorsionadas, plantas de los pies agrietadas e hipohidrosis. No ha habido más casos descritos en la literatura desde 1975."},"it":{"name":"Anonichia con pigmentazione delle regioni flessorie","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da anonichia congenita totale o unghie rudimentali, iper- e/o ipo-pigmentazione maculare (che interessa in particolare l'inguine, le ascelle e le mammelle), capelli grossolani (che si assottigliano notevolmente nella prima età adulta), cute secca nella regione palmoplantare associata a creste epidermiche distorte e pianta dei piedi dolente e fissurata, e ipoidrosi. Non sono stati descritti nuovi casi dopo il 1975."},"nl":{"name":"Anonychie met flexurale pigmentatie","definition":"Een zeldzaam ectodermale dysplasiesyndroom, gekarakteriseerd door anonychia congenita totalis of rudimentaire nagels, maculaire hyper- en/of hypopigmentatie (die voornamelijk de liezen, oksels en borsten treft), ruw hoofdhaar (dat opmerkelijk dunner wordt in de vroege volwassenheid), droge palmoplantaire huid met vervormde epidermale randen en pijnlijke, gebarsten voetzolen, en hypohidrose. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Anoníquia com pigmentação das flexuras"},"pl":{"name":"Brak paznokci z pigmentacją w okolicach zgięciowych"},"cs":{"name":"Anonychie s flexurální pigmentací"},"uk":{"name":"Аноніхія зі згинальною пігментацією","definition":"A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975."},"zh":{"name":"无甲症伴发弯曲色素沉着症"},"tr":{"name":"Fleksural pigmentasyonu ile seyreden anonişi"}},"xrefs":[{"source":"OMIM","code":"106750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"430494933"},{"source":"MONDO","code":"0007131","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"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":3.0,"area":"Worldwide","status":"Validated","source":"1156563[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1156563[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-16","source":"1156563[PMID]","terms":[{"hpo":"HP:0004404","label":"Abnormal nipple morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100872","label":"Abnormality of the plantar skin of foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040211","label":"Abnormality of the skin of the palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007471","label":"Axillary and groin hyperpigmentation and hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030503","label":"Macular telangiectasia","frequency":"Very frequent (99-80%)","criteria":null}]}}