{"orpha":79147,"name":"Familial reactive perforating collagenosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79147/","orphanet_url":"https://www.orpha.net/en/disease/detail/79147","names":{"fr":{"name":"Collagénose perforante réactionnelle familiale","definition":"Maladie génétique rare de la peau caractérisée par une élimination transépidermique des fibres de collagène, se manifestant sous forme de papules ou de nodules kératosiques récurrents dont la régression est spontanée."},"de":{"name":"Kollagenose, familiäre reaktive perforierende"},"es":{"name":"Colagenosis perforante reactiva familiar","definition":"Es una enfermedad cutánea de origen genético muy poco frecuente caracterizada por la eliminación transepidérmica de las fibras de colágeno dérmicas que se manifiesta clínicamente como pápulas o nódulos queratósicos recurrentes y autoinvolutivos."},"it":{"name":"Collagenosi reattiva perforante familiare","definition":"La collagenosi reattiva perforante familiare è una malattia cutanea molto rara, di origine genetica, caratterizzata dall'eliminazione transepidermica di fibre di collagene. La malattia esordisce con papule cheratosiche o noduli ricorrenti che regrediscono spontaneamente."},"nl":{"name":"Familiale reactieve perforerende collagenose","definition":"Familiale reactieve perforerende collagenose is een zeer zeldzame, genetische huidziekte die gekarakteriseerd wordt door transepidermale eliminatie van collageenvezels en zich manifesteert met recurrente, spontaan involuerende keratotische papels of noduli."},"pt":{"name":"Colagenose perfurante reativa, familiar"},"pl":{"name":"Rodzinna reaktywna perforująca kolagenoza"},"cs":{"name":"Familiární reaktivní perforující kolagenóza"},"uk":{"name":"Сімейний реактивний перфоративний колагеноз","definition":"Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules."},"zh":{"name":"家族性反应性穿通性胶原病"},"tr":{"name":"Ailesel reaktif perforan kollajenoz"}},"xrefs":[{"source":"OMIM","code":"216700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"563155724"},{"source":"MONDO","code":"0009000","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857624","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"17567305[PMID]_20101333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17567305[PMID]_20101333[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-22","source":"24891662[PMID]_20101333[PMID]_17567305[PMID]_4425619[PMID]_4166922[PMID]","terms":[{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031512","label":"Abnormal cutaneous collagen fibril morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011124","label":"Abnormality of epidermal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025164","label":"Increased number of elastic fibers in the dermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000606","label":"Abnormality of the periorbital region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007473","label":"Crusting erythematous dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012322","label":"Perifolliculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001005","label":"Dermatological manifestations of systemic disorders","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Excluded (0%)","criteria":null}]}}