{"orpha":79456,"name":"Diffuse cutaneous mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DCM","Diffuse cutaneous maculopapulous mastocytosis"],"definition":"Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79456/","orphanet_url":"https://www.orpha.net/en/disease/detail/79456","names":{"fr":{"name":"Mastocytose cutanée diffuse","synonyms":["DCM"],"definition":"Forme rare de mastocytose cutanée (MC) caractérisée par une érythrodermie généralisée, une formation plus ou moins prononcée de cloques, une peau présentant un aspect «&nbsp;peau d'orange&nbsp;» et une accumulation de mastocytes dans la peau. On distingue au moins deux formes de MCD&nbsp;: l'une se caractérisant par une formation importante de cloques (MCD bulleuse) et l'autre par des infiltrats (MCD pseudoxanthomatose)."},"de":{"name":"Mastozytose, kutane, diffuse Form","synonyms":["Diffuse kutane Mastozytose (DCM)"]},"es":{"name":"Mastocitosis cutánea difusa","synonyms":["DCM","Mastocitosis maculopapular cutánea difusa"],"definition":"La mastocitosis cutánea difusa (MCD) es una forma poco frecuente de mastocitosis cutánea (MC) caracterizada por eritrodermia generalizada, ampollas de varios grados, piel con aspecto en \"piel de naranja\" y acúmulo de mastocitos en la piel. Se reconocen al menos dos variantes de MCD, una con ampollas extremas (MCD ampollosa) y otra con infiltraciones (MCD pseudoxantomatosa)."},"it":{"name":"Mastocitosi cutanea diffusa","synonyms":["DCM","Mastocitosi maculopapulosa cutanea diffusa"]},"nl":{"name":"Diffuse cutane mastocytose","synonyms":["DCM","Diffuse cutane maculopapuleuze mastocytose"],"definition":"Diffuse cutane mastocytose (DCM) is een zeldzame vorm van cutane mastocytose (CM; zie deze term) die wordt gekarakteriseerd door gegeneraliseerde erytrodermie, wisselende gradaties van blaarvorming, huid met een 'peau d'orange' uiterlijk en accumulatie van mestcellen in de huid. Er worden minstens twee varianten van DCM erkend, één met verregaande blaarvorming (Bulleuze DCM; zie deze term) en één met infiltraties (Pseudoxanthomateuze DCM; zie deze term)."},"pt":{"name":"Mastocitose cutânea difusa"},"pl":{"name":"Rozlana mastocytoza skórna","synonyms":["DCM","Diffuse cutaneous maculopapulous mastocytosis"]},"cs":{"name":"Difuzní kožní mastocytóza","synonyms":["DCM","Difuzní kožní makulopapulózní mastocytóza"]},"uk":{"name":"Дифузний шкірний мастоцитоз","synonyms":["DCM","Дифузний шкірний макулопапульозний мастоцитоз"],"definition":"Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term)."},"zh":{"name":"弥漫皮肤性肥大细胞增多","synonyms":["弥漫皮肤斑丘疹性肥大细胞增多"]},"tr":{"name":"Diffüz kutanöz mastositoz","synonyms":["DCM","Yaygın kutanöz makulopapulöz mastositoz"]}},"xrefs":[{"source":"ICD-10","code":"Q82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"193128939"},{"source":"ICD-11","code":"XH2RG8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1817957388"},{"source":"MONDO","code":"0019315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024901","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":66646,"name":"Cutaneous mastocytosis","classifications":[187,194,202]}],"children":[{"orpha":280785,"name":"Bullous diffuse cutaneous mastocytosis","type":"Clinical subtype"},{"orpha":280794,"name":"Pseudoxanthomatous diffuse cutaneous mastocytosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15173254[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":280785,"name":"Bullous diffuse cutaneous mastocytosis"}},{"symbol":"KIT","name":"KIT proto-oncogene, receptor tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15173254[PMID]","hgnc":"6342","ensembl":"ENSG00000157404","omim":"164920","loci":["4q12"],"via":{"orpha":280794,"name":"Pseudoxanthomatous diffuse cutaneous mastocytosis"}}],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"20678092[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-22","source":"22092511[PMID]_30187958[PMID]","terms":[{"hpo":"HP:0025081","label":"Darier's sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025533","label":"Peau d'orange","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011971","label":"Dermatographic urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001743","label":"Abnormality of the spleen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Very rare (<4-1%)","criteria":null}]}}