{"orpha":53296,"name":"Familial cutaneous collagenoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53296/","orphanet_url":"https://www.orpha.net/en/disease/detail/53296","names":{"fr":{"name":"Collagénome cutané familial","definition":"Le collagénome cutané familial est un nævus du tissu conjonctif caractérisé par de multiples nodules asymptomatiques de couleur chair, distribués de manière symétrique sur le tronc et la partie supérieure des bras (surtout au niveau des deux-tiers supérieurs du dos), et survenant à l'adolescence. La biopsie cutanée révèle une accumulation de fibres de collagène avec une réduction du nombre de fibres élastiques. Des anomalies cardiaques peuvent être observées. La maladie suit un mode de transmission autosomique dominant."},"de":{"name":"Kollagenom, familiäres kutanes"},"es":{"name":"Colagenoma cutáneo familiar","definition":"Es un nevo de tejido conectivo caracterizado por múltiples nódulos asintomáticos de color carne distribuidos simétricamente en el tronco y en la parte superior de los brazos (principalmente en los dos tercios superiores de la espalda). Suele manifestarse en la adolescencia. La biopsia cutánea revela un aumento del número de fibras de colágeno dérmicas junto con una reducción de fibras elásticas. Puede asociarse a alteraciones cardíacas. Sigue un patrón de transmisión autosómico dominante."},"it":{"name":"Collagenoma cutaneo familiare","definition":"Il collagenoma cutaneo familiare è un nevo del tessuto connettivo caratterizzato da noduli asintomatici multipli di colore carne, localizzati in maniera simmetrica sul tronco e sugli avambracci (prevalentemente sui due terzi superiori della schiena), che esordisce durante l'adolescenza. La biopsia cutanea evidenzia un accumulo di fibre di collagene ed una riduzione delle fibre elastiche. Sono state osservate anomalie cardiache. Il collagenoma cutaneo familiare ha una trasmissione autosomica dominante."},"nl":{"name":"Familiaal cutaan collagenoom","definition":"Familiaal cutaan collagenoom is een bindweefselnaevus die gekarakteriseerd wordt door meerdere, vleeskleurige asymptomatische noduli, symmetrisch verdeeld op de romp en de bovenarmen (voornamelijk het bovenste twee derde deel van de rug), en die zich manifesteert rond de adolescentie. Huidbiopsie toont een accumulatie van collageenvezels met reductie van het aantal elastische vezels. Hartanomalieën kunnen waargenomen worden. Familiaal cutaan collagenoom volgt een autosomaal dominant overervingspatroon."},"pt":{"name":"Colagenoma cutâneo, familiar"},"pl":{"name":"Rodzinna skórna collagenoma"},"cs":{"name":"Familiární kožní kolagenom"},"uk":{"name":"Сімейна шкірна колагенома","definition":"Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission."},"zh":{"name":"家族性皮肤胶原瘤"},"tr":{"name":"ailesel kutanöz kollajenom"}},"xrefs":[{"source":"OMIM","code":"115250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L94.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"982220551"},{"source":"MONDO","code":"0007271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406817","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9799","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":["Autosomal dominant"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"5657391[PMID]_486326[PMID]_22028557[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5657391[PMID]_486326[PMID]_22028557[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null}]}}