{"Name":"Subcorneal pustular dermatosis","DiseaseID__c":"GARD:0013606","id":13606,"encodedName":"subcorneal-pustular-dermatosis","IsDeleted":false,"Disease_Name_Full__c":"Subcorneal pustular dermatosis","Xref_IDs__c":"25147002; C0600336; DOID:8508; L13.1; MEDGEN:108687; MONDO:0006614; ORPHA:48377","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0006614","Disease_Description__c":"Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities.","GARD_Name__c":"Subcorneal pustular dermatosis","GARD_Synonym__c":"pustulosis subcornealis; sneddon-wilkinson disease; sneddon-wilkinson disease or syndrome; sneddon-wilkinson syndrome; subcorneal pustular dermatitis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin. It is most common in middle-aged adults (particularly women) but can develop in children. Pustules usually appear over a few hours and grow together to form round or wavy patterns. They most often form in areas where the skin may touch or rub together, such as the groin area, underarms, inside the elbows, and behind the knees. The pustules may be mildly itchy or painful, but despite being pus filled, are not infected. The diagnosis of SPD is made based on the appearance of the pustules and the results of a skin biopsy (histologic findings). The cause of SPD is not known. There is currently no evidence it is inherited (no familial cases have been reported) and it is not contagious. SPD may be associated with other diseases or health problems including several autoimmune diseases, blood (hematologic) diseases, infections, and cancers. Rarely, it has been associated with taking certain medications (drug-induced SPD).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:48377","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0006614","ORPHANET_ID__c":"ORPHA:48377","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermatosis pustulosa subcórnea","Spanish_Description_Source__c":"ORPHA:48377","Spanish_Description__c":"Es una enfermedad crónica, benigna y poco frecuente caracterizada por una erupción pustulosa estéril que afecta típicamente a los sitios de flexión del tronco y de las extremidades proximales.","Spanish_Disease_Name__c":"dermatosis pustulosa subcórnea","Spanish_GARD_Synonym__c":"dermatitis pustulosa subcórnea; enfermedad de sneddon-wilkinson; pustulosis subcórnea","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":"Subcorneal pustular dermatosis (SPD) is a rare skin disease in which pus-filled pimples or blisters (pustules) form under the top (subcorneal) layer of the skin. It is most common in middle-aged adults (particularly women) but can develop in children. Pustules usually appear over a few hours and grow together to form round or wavy patterns. They most often form in areas where the skin may touch or rub together, such as the groin area, underarms, inside the elbows, and behind the knees. The pustules may be mildly itchy or painful, but despite being pus filled, are not infected. The diagnosis of SPD is made based on the appearance of the pustules and the results of a skin biopsy (histologic findings). The cause of SPD is not known. There is currently no evidence it is inherited (no familial cases have been reported) and it is not contagious. SPD may be associated with other diseases or health problems including several autoimmune diseases, blood (hematologic) diseases, infections, and cancers. Rarely, it has been associated with taking certain medications (drug-induced SPD).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pustulosis subcornealis; sneddon-wilkinson disease; sneddon-wilkinson disease or syndrome; sneddon-wilkinson syndrome; subcorneal pustular dermatitis","Name":"Subcorneal pustular dermatosis","estimateUsa":""}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:48377"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108687","Source__c":"C0600336","Xref__c":"MEDGEN:108687"},{"URL__c":"https://www.orpha.net/en/disease/detail/48377","Source__c":"C0600336; MONDO:0006614; ORPHA:48377","Xref__c":"ORPHA:48377"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=25147002","Source__c":"C0600336; MONDO:0006614","Xref__c":"25147002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8508","Source__c":"MONDO:0006614","Xref__c":"DOID:8508"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0600336","Source__c":"C0600336","Xref__c":"C0600336"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L13.1","Source__c":"MONDO:0006614","Xref__c":"L13.1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006614","Source__c":"GARD:0013606","Xref__c":"MONDO:0006614"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001370","HPO_Synonym__c":"RA; Rheumatoid arthritis","HPO_Name__c":"Rheumatoid arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased level of gamma globulin (immunoglobulin) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010702","HPO_Synonym__c":"Elevated immunoglobulin levels; Hypergammaglobulinaemia; Hypergammaglobulinemia; Increased antibody level in blood; Increased circulating antibody concentration; Increased circulating antibody level; Increased gamma globulin; Increased immunoglobulin level; Increased serum gamma globulin; Raised immunoglobulin levels","HPO_Name__c":"Increased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant plasma cell tumor growing within soft tissue or within the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006775","HPO_Name__c":"Multiple myeloma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000836","HPO_Synonym__c":"Overactive thyroid","HPO_Name__c":"Hyperthyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Very frequent (80-99%)","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:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["pustulosis subcornealis"," sneddon-wilkinson disease"," sneddon-wilkinson disease or syndrome"," sneddon-wilkinson syndrome"," subcorneal pustular dermatitis"]}