{"Name":"Familial multiple discoid fibromas","DiseaseID__c":"GARD:0008479","id":8479,"encodedName":"familial-multiple-discoid-fibromas","IsDeleted":false,"Disease_Name_Full__c":"Familial multiple discoid fibromas","Xref_IDs__c":"C1860850; C536847; MEDGEN:348201; MONDO:0008594; OMIM:190340; ORPHA:538756","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0008594","Disease_Description__c":"A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation.","GARD_Name__c":"Familial multiple discoid fibromas","GARD_Synonym__c":"familial multiple discoid fibroma; familial multiple trichodiscoma; familial multiple trichodiscomas; fmdf; hereditary multiple trichodiscomas; small benign fibrovascular tumor of the dermal part of the hair disk","Curated_Disease_Description_Source__c":"MEDGEN:C1860850","Curated_Disease_Description__c":"Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by Starink et al., 2012).Trichodiscoma, as this lesion was first described by Pinkus et al. (1974), is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. Starink et al. (2012) renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts.","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:538756","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008594","ORPHANET_ID__c":"ORPHA:538756","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fibromas discoides múltiples familiares","Spanish_Description_Source__c":"ORPHA:538756","Spanish_Description__c":"Es un trastorno tumoral cutáneo, de origen genético y poco frecuente, caracterizado por múltiples pápulas benignas, asintomáticas, blancas o de color carne, de inicio en la infancia, localizadas predominantemente en la cara, las orejas, el cuello y el tronco, no asociadas con afectación sistémica de órganos, neoplasias o mutaciones en el locus del gen <i>FLCN</i>.","Spanish_Disease_Name__c":"fibromas discoides múltiples familiares","Spanish_GARD_Synonym__c":"tricodiscomas múltiples familiares","Category_Linearization__c":"ORPHA:250908","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":"Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by Starink et al., 2012).Trichodiscoma, as this lesion was first described by Pinkus et al. (1974), is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. Starink et al. (2012) renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts.","Curated_Disease_Description_Source__c":"MEDGEN:C1860850","GARD_Synonym__c":"familial multiple discoid fibroma; familial multiple trichodiscoma; familial multiple trichodiscomas; fmdf; hereditary multiple trichodiscomas; small benign fibrovascular tumor of the dermal part of the hair disk","Name":"Familial multiple discoid fibromas","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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:538756"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:538756"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:538756"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:538756"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:538756"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1860850","Source__c":"C1860850","Xref__c":"C1860850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348201","Source__c":"C1860850","Xref__c":"MEDGEN:348201"},{"URL__c":"https://www.omim.org/entry/190340","Source__c":"C1860850; MONDO:0008594; ORPHA:538756","Xref__c":"OMIM:190340"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536847","Source__c":"MONDO:0008594","Xref__c":"C536847"},{"URL__c":"https://www.orpha.net/en/disease/detail/538756","Source__c":"C1860850; MONDO:0008594; ORPHA:538756","Xref__c":"ORPHA:538756"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008594","Source__c":"GARD:0008479","Xref__c":"MONDO:0008594"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222705009","Source__c":"C1860850","Xref__c":"1222705009"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:190340","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["familial multiple discoid fibroma"," familial multiple trichodiscoma"," familial multiple trichodiscomas"," fmdf"," hereditary multiple trichodiscomas"," small benign fibrovascular tumor of the dermal part of the hair disk"]}