{"Name":"Dermatofibrosarcoma protuberans","DiseaseID__c":"GARD:0009569","id":9569,"encodedName":"dermatofibrosarcoma-protuberans","IsDeleted":false,"Disease_Name_Full__c":"Dermatofibrosarcoma protuberans","Xref_IDs__c":"276799004; C3693482; C4683; C4700; D018223; DOID:3507; MEDGEN:811326; MONDO:0011934; OMIM:607907; ORPHA:31112","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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":1,"Description_Source__c":"MONDO:0011934","Disease_Description__c":"Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).","GARD_Name__c":"Dermatofibrosarcoma protuberans","GARD_Synonym__c":"dermatofibrosarcoma; dermatofibrosarcoma protuberans, somatic; dfsp; familial dermatofibrosarcoma protuberans (subtype); giant cell fibroblastoma; giant cell fibroblastoma of skin; metastatic dermatofibrosarcoma protuberans (subtype)","Curated_Disease_Description_Source__c":"GARD:0009569","Curated_Disease_Description__c":"Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. The tumor typically grows slowly and can become a raised nodule. Occasionally, the tumor begins as a flat or depressed patch of skin (plaque). Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck. Affected individuals usually first show signs of this condition in their thirties, but the age at which a tumor appears varies widely. In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize). There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. Giant cell fibroblastoma, which is sometimes referred to as juvenile dermatofibrosarcoma protuberans because it typically affects children and adolescents, is characterized by giant cells in the tumor. Rarely, the tumors involved in the different types of dermatofibrosarcoma protuberans can have regions that look similar to fibrosarcoma, a more aggressive type of soft tissue sarcoma. In these cases, the condition is called fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than tumors in the other types of dermatofibrosarcoma protuberans.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:31112","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011934","ORPHANET_ID__c":"ORPHA:31112","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dermatofibrosarcoma protuberante","Spanish_Description_Source__c":"ORPHA:31112","Spanish_Description__c":"El dermatofibrosarcoma protuberante (DFSP) es un sarcoma raro de tejido blando infiltrante, generalmente con un grado de malignidad bajo, que sale de la dermis de la piel y que, característicamente, se asocia a una translocación cromosómica específica: la t(17;22).","Spanish_Disease_Name__c":"dermatofibrosarcoma protuberante","Spanish_GARD_Synonym__c":"dfsp","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":"Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. The tumor typically grows slowly and can become a raised nodule. Occasionally, the tumor begins as a flat or depressed patch of skin (plaque). Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck. Affected individuals usually first show signs of this condition in their thirties, but the age at which a tumor appears varies widely. In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize). There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. Giant cell fibroblastoma, which is sometimes referred to as juvenile dermatofibrosarcoma protuberans because it typically affects children and adolescents, is characterized by giant cells in the tumor. Rarely, the tumors involved in the different types of dermatofibrosarcoma protuberans can have regions that look similar to fibrosarcoma, a more aggressive type of soft tissue sarcoma. In these cases, the condition is called fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than tumors in the other types of dermatofibrosarcoma protuberans.","Curated_Disease_Description_Source__c":"GARD:0009569","GARD_Synonym__c":"dermatofibrosarcoma; dermatofibrosarcoma protuberans, somatic; dfsp; familial dermatofibrosarcoma protuberans (subtype); giant cell fibroblastoma; giant cell fibroblastoma of skin; metastatic dermatofibrosarcoma protuberans (subtype)","Name":"Dermatofibrosarcoma protuberans","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"CancerCare","Website__c":"https://www.cancercare.org/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"Sarcoma Alliance for Research through Collaboration","Website__c":"https://sarctrials.org"}],"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":"All ages","Provided_By__c":"ORPHA:31112"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009569","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/607907","Source__c":"C3693482; MONDO:0011934; ORPHA:31112","Xref__c":"OMIM:607907"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=811326","Source__c":"C3693482","Xref__c":"MEDGEN:811326"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018223","Source__c":"MONDO:0011934","Xref__c":"D018223"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3507","Source__c":"MONDO:0011934","Xref__c":"DOID:3507"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4683","Source__c":"MONDO:0011934","Xref__c":"C4683"},{"URL__c":"https://www.orpha.net/en/disease/detail/31112","Source__c":"C3693482; MONDO:0011934","Xref__c":"ORPHA:31112"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=276799004","Source__c":"MONDO:0011934","Xref__c":"276799004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3693482","Source__c":"C3693482","Xref__c":"C3693482"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=238863004","Source__c":"C3693482","Xref__c":"238863004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128742004","Source__c":"C3693482","Xref__c":"128742004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011934","Source__c":"GARD:0009569","Xref__c":"MONDO:0011934"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4700","Source__c":"C3693482","Xref__c":"C4700"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100244","HPO_Name__c":"Fibrosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:31112","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:31112","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["dermatofibrosarcoma"," dermatofibrosarcoma protuberans, somatic"," dfsp"," familial dermatofibrosarcoma protuberans (subtype)"," giant cell fibroblastoma"," giant cell fibroblastoma of skin"," metastatic dermatofibrosarcoma protuberans (subtype)"]}