{"Name":"Pseudopelade of Brocq","DiseaseID__c":"GARD:0004536","id":4536,"encodedName":"pseudopelade-of-brocq","IsDeleted":false,"Disease_Name_Full__c":"Pseudopelade of Brocq","Xref_IDs__c":"238731001; C0086873; MEDGEN:88640; MONDO:0015261; ORPHA:129","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015261","Disease_Description__c":"Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.","GARD_Name__c":"Pseudopelade of Brocq","GARD_Synonym__c":"brocq pseudopelade; pseudo-pelade of brocq; pseudopelade","Curated_Disease_Description_Source__c":"GARD:0004536","Curated_Disease_Description__c":"Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). PBB is classified into two categories depending on whether a scarring alopecia is present (burnt-out or end-stage scarring) or not (idiopathic). The patches of hair loss present in PBB may be single or multiple. They are usually small, discrete, round or oval, and asymmetrical. The underlying skin is typically smooth, soft, and flesh-colored or white, with little, if any, inflammation. Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Other factors that may be involved include infections with Borrelia burgdorferi, the bacterium that causes Lyme disease and issues with the cells involved in hair growth (stem cell failure).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:129","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015261","ORPHANET_ID__c":"ORPHA:129","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudopelada de brocq","Spanish_Description_Source__c":"ORPHA:129","Spanish_Description__c":"La pseudopelada de Brocq es una anomalía del pelo poco frecuente que se caracteriza por la aparición en la edad adulta de parches de alopecia blandos, irregulares y de color carne, principalmente en las regiones parietal y vértice del cuero cabelludo, sin hiperqueratosis folicular o inflamación perifolicular.","Spanish_Disease_Name__c":"pseudopelada de brocq","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":"Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). PBB is classified into two categories depending on whether a scarring alopecia is present (burnt-out or end-stage scarring) or not (idiopathic). The patches of hair loss present in PBB may be single or multiple. They are usually small, discrete, round or oval, and asymmetrical. The underlying skin is typically smooth, soft, and flesh-colored or white, with little, if any, inflammation. Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Other factors that may be involved include infections with Borrelia burgdorferi, the bacterium that causes Lyme disease and issues with the cells involved in hair growth (stem cell failure).","Curated_Disease_Description_Source__c":"GARD:0004536","GARD_Synonym__c":"brocq pseudopelade; pseudo-pelade of brocq; pseudopelade","Name":"Pseudopelade of Brocq","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Scarring Alopecia Foundation","Website__c":"https://scarringalopecia.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:129"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0086873","Source__c":"C0086873","Xref__c":"C0086873"},{"URL__c":"https://www.orpha.net/en/disease/detail/129","Source__c":"C0086873; MONDO:0015261; ORPHA:129","Xref__c":"ORPHA:129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=88640","Source__c":"C0086873","Xref__c":"MEDGEN:88640"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238731001","Source__c":"C0086873; MONDO:0015261","Xref__c":"238731001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015261","Source__c":"GARD:0004536","Xref__c":"MONDO:0015261"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:129","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:129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100725","HPO_Name__c":"Lichenification","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:129","HPO_Frequency__c":"Frequent (30-79%)","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Dermatology"],"Disease Category":["Dermatology"],"Specialist":["Dermatology"]},"synonyms":["brocq pseudopelade"," pseudo-pelade of brocq"," pseudopelade"]}