{"Name":"Elastosis perforans serpiginosa","DiseaseID__c":"GARD:0010103","id":10103,"encodedName":"elastosis-perforans-serpiginosa","IsDeleted":false,"Disease_Name_Full__c":"Elastosis perforans serpiginosa","Xref_IDs__c":"49428008; C0221271; C536202; L87.2; MEDGEN:65137; MONDO:0007529; OMIM:130100; ORPHA:79148","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:79148","Disease_Description__c":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.","GARD_Name__c":"Elastosis perforans serpiginosa","GARD_Synonym__c":"elastoma intrapapillare perforans verruciformis; elastosis perforans; eps; keratosis follicularis serpiginosa; miescher elastoma; miescher's elastoma; perforating elastoma; perforating elastosis; perforating serpiginous elastosis","Curated_Disease_Description_Source__c":"ORPHA:79148","Curated_Disease_Description__c":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79148","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007529","ORPHANET_ID__c":"ORPHA:79148","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Elastosis perforans serpiginosa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"elastosis perforans serpiginosa","Spanish_GARD_Synonym__c":null,"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":"A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.","Curated_Disease_Description_Source__c":"ORPHA:79148","GARD_Synonym__c":"elastoma intrapapillare perforans verruciformis; elastosis perforans; eps; keratosis follicularis serpiginosa; miescher elastoma; miescher's elastoma; perforating elastoma; perforating elastosis; perforating serpiginous elastosis","Name":"Elastosis perforans serpiginosa","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:79148"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65137","Source__c":"C0221271","Xref__c":"MEDGEN:65137"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221271","Source__c":"C0221271","Xref__c":"C0221271"},{"URL__c":"https://www.omim.org/entry/130100","Source__c":"C0221271; MONDO:0007529; ORPHA:79148","Xref__c":"OMIM:130100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536202","Source__c":"MONDO:0007529","Xref__c":"C536202"},{"URL__c":"https://www.orpha.net/en/disease/detail/79148","Source__c":"C0221271; MONDO:0007529; ORPHA:79148","Xref__c":"ORPHA:79148"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/L87.2","Source__c":"MONDO:0007529","Xref__c":"L87.2"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=49428008","Source__c":"C0221271; MONDO:0007529","Xref__c":"49428008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007529","Source__c":"GARD:0010103","Xref__c":"MONDO:0007529"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007473","HPO_Name__c":"Crusting erythematous dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000271","HPO_Synonym__c":"Abnormal face; Abnormality of the face; Facial abnormality","HPO_Name__c":"Abnormality of the face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin with a ring-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025528","HPO_Name__c":"Annular cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000464","HPO_Synonym__c":"Abnormality of the neck; Anomaly of the neck","HPO_Name__c":"Abnormality of the neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A papule with the same color as the surrounding skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025512","HPO_Synonym__c":"Flesh-colored papule","HPO_Name__c":"Skin-colored papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wrinkled, redundant, inelastic and sagging skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000973","HPO_Synonym__c":"Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalized elastolysis; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045059","HPO_Name__c":"Hyperkeratotic papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79148","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin lesion with a snake- or serpent-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025527","HPO_Synonym__c":"Serpiginous eruption","HPO_Name__c":"Serpiginous cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology","Pediatrics"]},"synonyms":["elastoma intrapapillare perforans verruciformis"," elastosis perforans"," eps"," keratosis follicularis serpiginosa"," miescher elastoma"," miescher's elastoma"," perforating elastoma"," perforating elastosis"," perforating serpiginous elastosis"]}