{"Name":"Dermatofibrosis lenticularis disseminata","DiseaseID__c":"GARD:0027355","id":27355,"encodedName":"dermatofibrosis-lenticularis-disseminata","IsDeleted":false,"Disease_Name_Full__c":"Dermatofibrosis lenticularis disseminata","Xref_IDs__c":"60399005; C0265514; C537415; DOID:0111536; MEDGEN:120545; MONDO:0008157; OMIM:166700","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":null,"Disease_Description__c":null,"GARD_Name__c":"Dermatofibrosis lenticularis disseminata","GARD_Synonym__c":"bos; buschke-ollendorf syndrome; buschke-ollendorff syndrome; dermato-osteopoikilosis; dermatofibrosis lenticularis disseminata with osteopoikilosis; dermatoosteopoikilosis; disseminated dermatofibrosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; osteopoikilosis with or without melorheostosis","Curated_Disease_Description_Source__c":null,"Curated_Disease_Description__c":"Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body. Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. In some cases, the nevi are subtle and hard to feel. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen. Osteopoikilosis, which is from the Greek words for 'spotted bones,' refers to small, round areas of increased bone density that appear as bright spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems. Other bone abnormalities can also occur with Buschke-Ollendorff syndrome, although they are less common. For example, a small percentage of affected individuals have melorheostosis, which is characterized by excess bone growth on the surface of existing bones in a pattern resembling dripping candle wax. Melorheostosis usually affects the bones in one arm or leg, although it can also affect bones in other areas of the body. This abnormality can cause long-lasting (chronic) pain, permanent joint deformities (contractures), and a limited range of motion of the affected body part.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008157","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body. Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. In some cases, the nevi are subtle and hard to feel. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen. Osteopoikilosis, which is from the Greek words for 'spotted bones,' refers to small, round areas of increased bone density that appear as bright spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems. Other bone abnormalities can also occur with Buschke-Ollendorff syndrome, although they are less common. For example, a small percentage of affected individuals have melorheostosis, which is characterized by excess bone growth on the surface of existing bones in a pattern resembling dripping candle wax. Melorheostosis usually affects the bones in one arm or leg, although it can also affect bones in other areas of the body. This abnormality can cause long-lasting (chronic) pain, permanent joint deformities (contractures), and a limited range of motion of the affected body part.","GARD_Synonym__c":"bos; buschke-ollendorf syndrome; buschke-ollendorff syndrome; dermato-osteopoikilosis; dermatofibrosis lenticularis disseminata with osteopoikilosis; dermatoosteopoikilosis; disseminated dermatofibrosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; osteopoikilosis with or without melorheostosis","Name":"Dermatofibrosis lenticularis disseminata","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001044","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537415","Source__c":"MONDO:0008157","Xref__c":"C537415"},{"URL__c":"https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome","Source__c":"GARD:0027355","Xref__c":"https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111536","Source__c":"MONDO:0008157","Xref__c":"DOID:0111536"},{"URL__c":"https://www.omim.org/entry/166700","Source__c":"C0265514; MONDO:0008157","Xref__c":"OMIM:166700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60399005","Source__c":"C0265514","Xref__c":"60399005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265514","Source__c":"C0265514","Xref__c":"C0265514"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120545","Source__c":"C0265514","Xref__c":"MEDGEN:120545"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008157","Source__c":"GARD:0027355","Xref__c":"MONDO:0008157"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LEMD3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lemd3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:166700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100898","HPO_Name__c":"Connective tissue nevi","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000943","HPO_Synonym__c":"Femoral slcerotic foci; Sclerotic foci of the femur","HPO_Name__c":"Femoral osteopoikilosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010816","HPO_Name__c":"Epidermal nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003764","HPO_Synonym__c":"Mole; Naevus","HPO_Name__c":"Nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010739","HPO_Name__c":"Osteopoikilosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166700","Feature__r":{"HPO_Description__c":"Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000817","HPO_Name__c":"Melorheostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["bos"," buschke-ollendorf syndrome"," buschke-ollendorff syndrome"," dermato-osteopoikilosis"," dermatofibrosis lenticularis disseminata with osteopoikilosis"," dermatoosteopoikilosis"," disseminated dermatofibrosis"," disseminated dermatofibrosis with osteopoikilosis"," osteopathia condensans disseminata"," osteopoikilosis with or without melorheostosis"]}