{"orpha":1656,"name":"Dermatitis herpetiformis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Duhring-Brocq disease"],"definition":"A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1656/","orphanet_url":"https://www.orpha.net/en/disease/detail/1656","names":{"fr":{"name":"Dermatite herpétiforme","synonyms":["Maladie de Duhring-Brocq"],"definition":"Dermatite bulleuse auto-immune sous-épidermique chronique caractérisée par des lésions prurigineuses groupées telles que des papules, des plaques urticariennes, des érythèmes et des vésicules herpétiformes, réparties principalement de manière symétrique sur les surfaces d'extension des coudes (90 %), des genoux (30 %), des épaules, des fesses, de la région sacrée et du visage chez les enfants et les adultes. L'atteinte évolue généralement vers des érosions, des excoriations et vers une hyperpigmentation. L'apparition de la maladie peut également être une conséquence de l'intolérance au gluten."},"de":{"name":"Dermatitis herpetiformis","synonyms":["Dermatitis herpetiformis Duhring","Duhring-Brocq-Krankheit"],"definition":"Eine chronische subepidermale bullöse Autoimmunerkrankung, die durch gruppierte juckende Läsionen wie Papeln, urtikarielle Plaques, Erytheme und herpetiforme Bläschen gekennzeichnet ist, die überwiegend symmetrisch auf den Streckseiten der Ellenbogen (90 %), Knie (30 %), Schultern, Gesäß, Sakralbereich und Gesicht verteilt sind. Am häufigsten sind Kinder und junge Erwachsene betroffen. Erosionen, Exkoriationen und Hyperpigmentierungen sind häufig. Die Dermatitis herpetiformis (DH) kann auch als Folge einer Glutenunverträglichkeit auftreten."},"es":{"name":"Dermatitis herpetiforme","synonyms":["Enfermedad de Durhing-Brocq"],"definition":"Es una enfermedad ampollosa subepidérmica autoinmune crónica caracterizada por lesiones pruriginosas agrupadas, tales como pápulas, placas urticariales, eritema y vesículas herpetiformes, con una distribución predominantemente simétrica en las superficies extensoras de los codos (90%), las rodillas (30%), los hombros, las nalgas, la región sacra y la cara de niños y adultos. Estas lesiones suelen estar seguidas de erosiones, excoriaciones e hiperpigmentación. La enfermedad también puede aparecer como consecuencia de la intolerancia al gluten."},"it":{"name":"Dermatite erpetiforme","synonyms":["Malattia di Duhring-Brocq"]},"nl":{"name":"Dermatitis herpetiformis","synonyms":["Ziekte van Duhring-Brocq"],"definition":"Een chronische, auto-immune, subepidermale bulleuze ziekte, gekarakteriseerd door gegroepeerde pruritische laesies zoals papels, urticariële plaques, erytheem en herpetiforme vesikels, met voornamelijk symmetrische verdeling op de strekzijde van elleboog (90%), knie (30%), schouder, achterwerk, regio van heiligbeen, en aangezicht van kinderen en volwassenen. Meestal volgen erosies, excoriaties en hyperpigmentatie. Het kan ook voorkomen als gevolg van glutenintolerantie."},"pt":{"name":"Dermatite herpetiforme","synonyms":["Doença de Duhring-Brocq"]},"pl":{"name":"Opryszczkowate zapalenie skóry","synonyms":["Choroba Durhinga i Brocqa"]},"cs":{"name":"Duhringova dermatitida","synonyms":["Duhringova choroba","Duhringova herpetiformní dermatitida","Dermatitis herpetiformis Duhring","Duhringova dermatitida"]},"uk":{"name":"Герпетиформний дерматит","synonyms":["Хвороба Дюринга-Брока"],"definition":"A chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. It may also appear as a consequence of gluten intolerance."},"zh":{"name":"疱疹样皮炎","synonyms":["Duhring-Brocq病"]},"tr":{"name":"Dermatit herpetiformis","synonyms":["Duhring-Brocq hastalığı"]}},"xrefs":[{"source":"OMIM","code":"601230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L13.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB44","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"286313127"},{"source":"MONDO","code":"0015614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011608","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1917","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012468","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79669,"name":"Autoimmune bullous skin disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":27.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Italy","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Ireland","status":"Validated","source":"5023901[PMID]_6641006[PMID]_[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":17.6,"area":"Ireland","status":"Validated","source":"5023901[PMID]_6641006[PMID]_[EXPERT]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Sweden","status":"Validated","source":"6208718[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":21.0,"area":"Sweden","status":"Not yet validated","source":"6208718[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"United States","status":"Validated","source":"1456754[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.2,"area":"United States","status":"Validated","source":"1456754[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Finland","status":"Validated","source":"21517799[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":75.3,"area":"Finland","status":"Validated","source":"21517799[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.5,"area":"United Kingdom","status":"Validated","source":"6693042[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-15","source":"29630215[PMID]_34441049[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012538","label":"Gluten intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033637","label":"Anti-endomysial antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033565","label":"Anti-epidermal transglutaminase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000030","label":"Anti-reticulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000026","label":"Anti-transglutaminase 6 antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000031","label":"Anti-type VII collagen antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000029","label":"Antigliadin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009722","label":"Dental enamel pits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031446","label":"Erosion of oral mucosa","frequency":"Very rare (<4-1%)","criteria":null}]}}