{"orpha":79100,"name":"Atrophoderma vermiculata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Folliculitis ulerythematosa reticulate"],"definition":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79100/","orphanet_url":"https://www.orpha.net/en/disease/detail/79100","names":{"fr":{"name":"Atrophodermie vermiculée","synonyms":["Folliculite ulérythémateuse réticulée"],"definition":"Maladie dermatologique rare d'origine génétique, caractérisée par des papules kératosiques folliculaires apparaissant pendant l'enfance et évoluant lentement vers une atrophie caractéristique en « nid d'abeille » sur les joues, la zone pré-auriculaire et le front. Moins fréquemment, la maladie peut également toucher la lèvre supérieure, les oreilles ou les membres. Les autres signes cliniques sont l'érythème facial, les grains de milium et les bouchons cornés."},"de":{"name":"Atrophodermia vermiculata","synonyms":["Folliculitis ulerythematosa reticulata"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, bei der in der Kindheit follikuläre keratotische Papeln auftreten, die sich langsam zu einer charakteristischen \"wabenförmigen\" Atrophie an den Wangen, im präaurikulären Bereich und auf der Stirn entwickeln. Seltener kann die Erkrankung auch die Oberlippe, die Ohren oder die Gliedmaßen betreffen. Weitere Merkmale sind Gesichtsrötungen, Milien und Follikelpfropfen."},"es":{"name":"Atrofodermia vermiculada","synonyms":["Foliculitis uleritematosa reticulada"],"definition":"Es una enfermedad genética de la piel poco frecuente caracterizada por la aparición de unas pápulas queratósicas foliculares en la infancia que progresan lentamente hasta una atrofia característica en panal de abejas en las mejillas, el área preauricular y la frente. Con una frecuencia menor, puede afectar también al labio superior, las orejas o las extremidades. Otras características adicionales incluyen el eritema facial, los quistes de milium y los tapones foliculares."},"it":{"name":"Atrofia cutanea vermicolare","synonyms":["Follicolite uleritematosa reticolata"],"definition":"Si tratta di una malattia cutanea genetica rara, caratterizzata da papule cheratosiche follicolari ad esordio infantile, che progrediscono lentamente verso la caratteristica atrofia ''a nido d'ape'' che interessa le guance, la zona preauricolare e la fronte. Più raramente la malattia interessa anche il labbro superiore, le orecchie e gli arti. Altri segni clinici sono l'eritema del viso, i milia e l'occlusione follicolare."},"nl":{"name":"Atrophoderma vermiculata","synonyms":["Folliculitis ulerythematosa reticulata"],"definition":"Een zeldzame, genetische huidaandoening, gekarakteriseerd door aanvang in de kindertijd van folliculaire keratotische papels die traag evolueren tot typische 'honingraat'-atrofie van wang, preauriculair gebied, en voorhoofd. Minder frequent kan de aandoening ook bovenlip, oor of ledematen treffen. Bijkomende kenmerken zijn onder meer faciaal erytheem, milia, en afgesloten haarfollikels."},"pt":{"name":"Atrofodermia vermiculada","synonyms":["Foliculite uleritematosa reticulada"]},"pl":{"name":"Robakowaty zanik skóry","synonyms":["Rogowacenie zapalne mieszków włosowych siatkowate"]},"cs":{"name":"Atrophoderma vermiculata","synonyms":["Folliculitis ulerythematosa reticulate"]},"uk":{"name":"Атрофодерма вермикулярна","synonyms":["Сітчастий уртикарний висипний фолікуліт"],"definition":"A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs."},"zh":{"name":"虫蚀状皮肤萎缩","synonyms":["网状红瘢性毛囊炎"]},"tr":{"name":"Atrofoderma vermikülata","synonyms":["Folikülit ülerythematosa retikülat"]}},"xrefs":[{"source":"OMIM","code":"209700","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604093","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L66.4","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"ED56","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075050916"},{"source":"MONDO","code":"0008849","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263429","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9744","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":498,"name":"Keratosis pilaris atrophicans","classifications":[156,187]}],"children":[],"genes":[{"symbol":"LRP1","name":"LDL receptor related protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26142438[PMID]","hgnc":"6692","ensembl":"ENSG00000123384","omim":"107770","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-28","source":"29386852[PMID]_29386852[PMID]","terms":[{"hpo":"HP:0011124","label":"Abnormality of epidermal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007515","label":"Hypoplastic pilosebaceous units","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100276","label":"Skin pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000306","label":"Abnormality of the chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100277","label":"Periauricular skin pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null}]}}