{"Name":"Acquired epidermolysis bullosa","DiseaseID__c":"GARD:0006360","id":6360,"encodedName":"acquired-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Acquired epidermolysis bullosa","Xref_IDs__c":"2772003; C0079293; C84690; D016107; DOID:4313; L12.3; MEDGEN:37178; MONDO:0018747; ORPHA:46487","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0018747","Disease_Description__c":"A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.","GARD_Name__c":"Acquired epidermolysis bullosa","GARD_Synonym__c":"eba; eba - epidermolysis bullosa acquisita; epidermolysis bullosa acquisita; epidermolysis bullosa aquisita","Curated_Disease_Description_Source__c":"GARD:0006360","Curated_Disease_Description__c":"Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not inherited and usually occurs in adulthood. Immunosuppressive drugs may be used to reduce the body's autoimmune response.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:46487","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018747","ORPHANET_ID__c":"ORPHA:46487","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa adquirida","Spanish_Description_Source__c":"ORPHA:46487","Spanish_Description__c":"Es una enfermedad ampollosa autoinmune subepitelial crónica, incurable y poco frecuente, caracterizada por la presencia de autoanticuerpos unidos a tejido contra el colágeno tipo VII dentro de la zona de la membrana basal de la unión dermo-epidérmica del epitelio escamoso estratificado. El suero del paciente también puede contener autoanticuerpos anti-colágeno tipo VII. La presentación clínica es variada y puede afectar a la piel, la mucosa oral y el tercio superior del esófago. La presentación clásica recuerda a la epidermólisis ampollosa distrófica hereditaria (EB) con fragilidad de la piel, ampollas y erosiones y cicatrices en la piel. Otras presentaciones clínicas no clásicas incluyen una erupción inflamatoria similar al penfigoide ampolloso, al penfigoide de membrana mucosa y la enfermedad similar a la dermatosis ampollosa por IgA.","Spanish_Disease_Name__c":"epidermólisis ampollosa adquirida","Spanish_GARD_Synonym__c":"epidermólisis bullosa adquirida","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not inherited and usually occurs in adulthood. Immunosuppressive drugs may be used to reduce the body's autoimmune response.","Curated_Disease_Description_Source__c":"GARD:0006360","GARD_Synonym__c":"eba; eba - epidermolysis bullosa acquisita; epidermolysis bullosa acquisita; epidermolysis bullosa aquisita","Name":"Acquired epidermolysis bullosa","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoimmune Registry","Website__c":"https://www.autoimmuneregistry.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:46487"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:46487"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:46487"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:46487"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:46487"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=37178","Source__c":"C0079293","Xref__c":"MEDGEN:37178"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4313","Source__c":"MONDO:0018747","Xref__c":"DOID:4313"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016107","Source__c":"C0079293; MONDO:0018747","Xref__c":"D016107"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L12.3","Source__c":"MONDO:0018747","Xref__c":"L12.3"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84690","Source__c":"C0079293; MONDO:0018747","Xref__c":"C84690"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=2772003","Source__c":"C0079293; MONDO:0018747","Xref__c":"2772003"},{"URL__c":"https://www.orpha.net/en/disease/detail/46487","Source__c":"C0079293; MONDO:0018747; ORPHA:46487","Xref__c":"ORPHA:46487"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0079293","Source__c":"C0079293","Xref__c":"C0079293"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018747","Source__c":"GARD:0006360","Xref__c":"MONDO:0018747"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:46487","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["eba"," eba - epidermolysis bullosa acquisita"," epidermolysis bullosa acquisita"," epidermolysis bullosa aquisita"]}