{"orpha":2907,"name":"Hereditary acrokeratotic poikiloderma","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Weary syndrome"],"definition":"A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2907/","orphanet_url":"https://www.orpha.net/en/disease/detail/2907","names":{"fr":{"name":"Poïkilodermie acrokératosique congénitale","synonyms":["Syndrome de Weary"],"definition":"Poïkilodermie héréditaire rare caractérisée par la formation, dans l'enfance, de vésico-pustules sur les mains et les pieds et par une dermatite eczémateuse généralisée (les deux se résorbant spontanément pendant l'enfance), ainsi que par le développement progressif d'une poïkilodermie diffuse avec atrophie striée et réticulée (épargnant le visage, le cuir chevelu et les oreilles) et, à partir de la petite enfance, de papules kératosiques sur les mains, les pieds, les coudes et les genoux. Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Poikilodermie, akrokeratotische, hereditäre","synonyms":["Weary-Syndrom"],"definition":"Eine seltene hereditäre Poikilodermie, die sich durch eine im Säuglingsalter beginnende vesikopustuläre Erscheinung an Händen und Füßen und eine weit verbreitete ekzematöse Dermatitis auszeichnet (die sich beide im Laufe der Kindheit spontan zurückbilden), sowie durch eine sich allmählich entwickelnde diffuse Poikilodermie mit gestreifter und netzartiger Atrophie (mit Ausnahme des Gesichts, der Kopfhaut und der Ohren) und der Entwicklung keratotischer Papeln an Händen, Füßen, Ellenbogen und Knien, die in der frühen Kindheit beginnt. Seit 1981 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Poiquilodermia acroqueratósica hereditaria","synonyms":["Síndrome de Weary"],"definition":"Es una poiquilodermia hereditaria poco frecuente que se caracteriza por la formación de vésico-púsculas en las manos y en los pies en la lactancia y una dermatitis eccematoide generalizada (ambas se resuelven espontáneamente durante la infancia), así como por el desarrollo gradual de poiquilodermia difusa con atrofia estriada y reticulada (excluyendo la cara, el cuero cabelludo y las orejas), y el desarrollo de pápulas queratósicas en manos, pies, codos y rodillas a partir de la primera infancia. No ha habido más descripciones en la literatura desde 1981."},"it":{"name":"Poichilodermia acrocheratosica ereditaria","synonyms":["Poichilodermia congenita con bolle, tipo Weary"],"definition":"Si tratta di una poichilodermia ereditaria rara, caratterizzata da vescico-pustole ad esordio infantile localizzate sulle mani e sui piedi, dermatite eczematoide diffusa (entrambe si risolvono spontaneamente durante l'infanzia), poichilodermia graduale diffusa associata ad atrofia striata e reticolata (che risparmia il viso, il cuoio capelluto e le orecchie) e da papule cheratosiche localizzate sulle mani, sui piedi, sui gomiti e sulle ginocchia, che esordiscono nella prima infanzia. Non sono stati descritti nuovi casi dopo il 1981."},"nl":{"name":"Erfelijke acrokeratotische poikilodermie","synonyms":["Syndroom van Weary"],"definition":"Een zeldzame hereditaire poikilodermie, gekarakteriseerd door infantiele aanvang van vorming van vesicopustels op handen en voeten en wijdverspreide eczematoïde dermatitis (die beide spontaan verdwijnen in de kindertijd), alsook graduele ontwikkeling van diffuse poikilodermie met gestreepte en netvormige atrofie (met uitzondering van gelaat, scalp, en oren), en ontwikkeling van keratotische papels op handen, voeten, ellebogen, en knieën vanaf de vroege kindertijd. Sinds 1981 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Poiquilodermia acroqueratótica hereditária","synonyms":["Síndrome Weary"]},"pl":{"name":"Dziedziczna poikilodermia z akrokeratozą","synonyms":["Wrodzona poikilodermia z pęcherzami, typu Weary"]},"cs":{"name":"Dědičná akrokeratotická poikilodermie, Wearyho typ","synonyms":["Vrozená poikilodermie s bulami, Wearyho typ"]},"uk":{"name":"Спадкова акрокератотична пойкілодермія","synonyms":["Синдром Веарі"],"definition":"A rare hereditary poikiloderma characterized by infantile onset of vesicopustule formation on hands and feet and widespread eczematoid dermatitis (both spontaneously resolving during childhood), as well as gradually developing diffuse poikiloderma with striate and reticulate atrophy (excluding the face, scalp, and ears), and development of keratotic papules on hands, feet, elbows, and knees, beginning in early childhood. There have been no further descriptions in the literature since 1981."},"zh":{"name":"遗传性肢端角化性皮肤异色症","synonyms":["Weary综合征"]},"tr":{"name":"Kalıtsal akrokeratotik poikiloderma","synonyms":["Weary sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"726317303"},{"source":"MONDO","code":"0017365","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17365","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406556","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4253719[PMID]_7015974[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"4253719[PMID]_7015974[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100669","label":"Abnormal pigmentation of the oral mucosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100587","label":"Abnormality of the preputium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002745","label":"Oral leukoplakia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006740","label":"Transitional cell carcinoma of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Occasional (29-5%)","criteria":null}]}}