{"Name":"Pilomatrixoma","DiseaseID__c":"GARD:0009452","id":9452,"encodedName":"pilomatrixoma","IsDeleted":false,"Disease_Name_Full__c":"Pilomatrixoma","Xref_IDs__c":"274901004; 44155009; C0206711; C7368; D018296; DOID:5374; HP:0030434; MEDGEN:61666; MONDO:0007564; OMIM:132600; ORPHA:91414","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007564","Disease_Description__c":"Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).","GARD_Name__c":"Pilomatrixoma","GARD_Synonym__c":"benign calcifying epithelioma; benign calcifying epithelioma of malherbe; calcifying epithelioma of malherbe; calcifying epitherlioma of malherbe; epithelioma calcificans of malherbe; pilomatricoma; pilomatricoma, somatic; pilomatrixoma, benign; ptr","Curated_Disease_Description_Source__c":"GARD:0009452","Curated_Disease_Description__c":"Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur). Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life. Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:91414","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007564","ORPHANET_ID__c":"ORPHA:91414","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pilomatrixoma","Spanish_Description_Source__c":"ORPHA:91414","Spanish_Description__c":"Es un tumor benigno poco frecuente derivado de las células pilosas que se desarrolla mayoritariamente en adultos jóvenes (por lo general antes de los 20 años de edad). Se caracteriza por ser un tumor aislado, no doloroso, firme y móvil, de 3-30 mm, situado en la dermis profunda o en el tejido subcutáneo y que se encuentra con mayor frecuencia en la cabeza, cuello y extremidades superiores. Cuando es superficial, la piel presenta una coloración violácea. Se han descrito pilomatrixomas múltiples en la distrofia miotónica, el síndrome de Gardner, el síndrome de Rubinstein-Taybi, y el síndrome de Turner.","Spanish_Disease_Name__c":"pilomatrixoma","Spanish_GARD_Synonym__c":"epitelioma calcificante de malherbe","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":"Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) skin tumor associated with hair follicles. Hair follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head or neck, although they can also be found on the arms, torso, or legs. A pilomatricoma feels like a small, hard lump under the skin. This type of tumor grows relatively slowly and usually does not cause pain or other symptoms. Most affected individuals have a single tumor, although rarely multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it tends not to grow back (recur). Most pilomatricomas occur in people under the age of 20. However, these tumors can also appear later in life. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). Unlike the benign form, the malignant version of this tumor (known as a pilomatrix carcinoma) occurs most often in middle age or late in life. Pilomatricoma usually occurs without other signs or symptoms (isolated), but this type of tumor has also rarely been reported with inherited conditions. Disorders that can be associated with pilomatricoma include Gardner syndrome, which is characterized by multiple growths (polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts of the body and is associated with an increased risk of both benign and malignant tumors.","Curated_Disease_Description_Source__c":"GARD:0009452","GARD_Synonym__c":"benign calcifying epithelioma; benign calcifying epithelioma of malherbe; calcifying epithelioma of malherbe; calcifying epitherlioma of malherbe; epithelioma calcificans of malherbe; pilomatricoma; pilomatricoma, somatic; pilomatrixoma, benign; ptr","Name":"Pilomatrixoma","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:91414"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:91414"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:91414"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206711"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009452","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=274901004","Source__c":"C0206711; MONDO:0007564","Xref__c":"274901004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61666","Source__c":"C0206711","Xref__c":"MEDGEN:61666"},{"URL__c":"https://www.orpha.net/en/disease/detail/91414","Source__c":"C0206711; MONDO:0007564; ORPHA:91414","Xref__c":"ORPHA:91414"},{"URL__c":"https://www.omim.org/entry/132600","Source__c":"C0206711; MONDO:0007564; ORPHA:91414","Xref__c":"OMIM:132600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018296","Source__c":"C0206711; MONDO:0007564","Xref__c":"D018296"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206711","Source__c":"C0206711","Xref__c":"C0206711"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5374","Source__c":"MONDO:0007564","Xref__c":"DOID:5374"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C7368","Source__c":"C0206711; MONDO:0007564","Xref__c":"C7368"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007564","Source__c":"GARD:0009452","Xref__c":"MONDO:0007564"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44155009","Source__c":"C0206711","Xref__c":"44155009"},{"URL__c":"https://medlineplus.gov/genetics/condition/pilomatricoma","Source__c":"GARD:0009452","Xref__c":"https://medlineplus.gov/genetics/condition/pilomatricoma"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030434","Source__c":"C0206711","Xref__c":"HP:0030434"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTNNB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctnnb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:91414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91414","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030434","HPO_Name__c":"Pilomatrixoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91414","HPO_Frequency__c":"Uncommon (<1-4%)","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:91414","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of autoantibodies in the blood circulation that react against myeloperoxidase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033559","HPO_Synonym__c":"Anti-MPO antibody positivity; Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody; MPO-ANCA","HPO_Name__c":"Anti-myeloperoxidase antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012288","HPO_Synonym__c":"Head and neck tumor","HPO_Name__c":"Neoplasm of head and neck","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Pediatrics"],"Disease Category":["Cancer","Dermatology"],"Account":["Dermatology"]},"synonyms":["benign calcifying epithelioma"," benign calcifying epithelioma of malherbe"," calcifying epithelioma of malherbe"," calcifying epitherlioma of malherbe"," epithelioma calcificans of malherbe"," pilomatricoma"," pilomatricoma, somatic"," pilomatrixoma, benign"," ptr"]}