{"Name":"Proliferating trichilemmal cyst","DiseaseID__c":"GARD:0004509","id":4509,"encodedName":"proliferating-trichilemmal-cyst","IsDeleted":false,"Disease_Name_Full__c":"Proliferating trichilemmal cyst","Xref_IDs__c":"254678009; C27125; C2959585; MEDGEN:754766; MONDO:0018850; ORPHA:492","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018850","Disease_Description__c":"A rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.","GARD_Name__c":"Proliferating trichilemmal cyst","GARD_Synonym__c":"pilar cyst; pilar tumor; pilar tumour; proliferating pilar cyst; proliferating pilar tumor; proliferating pilar tumour; proliferating trichilemmal tumor; proliferating trichilemmal tumour; proliferating tricholemmal cyst; proliferating tricholemmal tumor; proliferating tricholemmal tumour","Curated_Disease_Description_Source__c":"GARD:0004509","Curated_Disease_Description__c":"Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women. The tumor is not painful but sometimes they may grow very large and pressure and damage the skin around it resulting in wounds and foul-smelling discharge. About 90% of the cases are on the scalp, but they have also been found on the forehead, nose, back, chest, abdomen, buttocks, elbow, wrist and genitalia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:492","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018850","ORPHANET_ID__c":"ORPHA:492","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste triquilemal proliferante","Spanish_Description_Source__c":"ORPHA:492","Spanish_Description__c":"Es un tumor grande, multinodular, normalmente benigno, que está generalmente localizado en la parte posterior del cuero cabelludo en mujeres mayores (de más de 50 años). Aparece primero como un nódulo indoloro que se convierte más tarde en un tumor sólido o parcialmente quístico, móvil bajo los tejidos subcutáneos subyacentes. Puede presentar ulceraciones, inflamación o incluso sangrado y puede causar necrosis de los tejidos adyacentes.","Spanish_Disease_Name__c":"quiste triquilemal proliferante","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":"Proliferating trichilemmal tumor (PTT) is a benign tumor originating from the hair follicle. Although it is a benign tumor, PTT may be locally aggressive and in very rare cases the tumor may become malignant. In most cases there is only one lesion and occur in elderly women. The tumor is not painful but sometimes they may grow very large and pressure and damage the skin around it resulting in wounds and foul-smelling discharge. About 90% of the cases are on the scalp, but they have also been found on the forehead, nose, back, chest, abdomen, buttocks, elbow, wrist and genitalia.","Curated_Disease_Description_Source__c":"GARD:0004509","GARD_Synonym__c":"pilar cyst; pilar tumor; pilar tumour; proliferating pilar cyst; proliferating pilar tumor; proliferating pilar tumour; proliferating trichilemmal tumor; proliferating trichilemmal tumour; proliferating tricholemmal cyst; proliferating tricholemmal tumor; proliferating tricholemmal tumour","Name":"Proliferating trichilemmal cyst","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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:492"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2959585","Source__c":"C2959585","Xref__c":"C2959585"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27125","Source__c":"C2959585; MONDO:0018850","Xref__c":"C27125"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=754766","Source__c":"C2959585","Xref__c":"MEDGEN:754766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254678009","Source__c":"C2959585; MONDO:0018850","Xref__c":"254678009"},{"URL__c":"https://www.orpha.net/en/disease/detail/492","Source__c":"C2959585; MONDO:0018850; ORPHA:492","Xref__c":"ORPHA:492"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128638007","Source__c":"C2959585","Xref__c":"128638007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018850","Source__c":"GARD:0004509","Xref__c":"MONDO:0018850"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=446023005","Source__c":"C2959585","Xref__c":"446023005"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:492","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200040","HPO_Synonym__c":"Epidermal cyst; Epidermal inclusion cyst; Infundibular cyst; Keratin cyst","HPO_Name__c":"Epidermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:492","HPO_Frequency__c":"Frequent (30-79%)","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:492","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology"],"Disease Category":["Cancer","Dermatology"],"Account":["Dermatology"]},"synonyms":["pilar cyst"," pilar tumor"," pilar tumour"," proliferating pilar cyst"," proliferating pilar tumor"," proliferating pilar tumour"," proliferating trichilemmal tumor"," proliferating trichilemmal tumour"," proliferating tricholemmal cyst"," proliferating tricholemmal tumor"," proliferating tricholemmal tumour"]}