{"Name":"Hyperkeratosis lenticularis perstans","DiseaseID__c":"GARD:0002824","id":2824,"encodedName":"hyperkeratosis-lenticularis-perstans","IsDeleted":false,"Disease_Name_Full__c":"Hyperkeratosis lenticularis perstans","Xref_IDs__c":"28488007; C0263420; C538377; HP:0007570; MEDGEN:120477; MONDO:0007756; OMIM:144150; ORPHA:409","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:409","Disease_Description__c":"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.","GARD_Name__c":"Hyperkeratosis lenticularis perstans","GARD_Synonym__c":"flegel disease; flegel's disease; flegels disease; hlp; hlp - hyperkeratosis lenticularis perstans; hyperkeratosis lenticularis perstans (disease); hyperkeratosis lenticularis perstans of flegel","Curated_Disease_Description_Source__c":"ORPHA:409","Curated_Disease_Description__c":"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:409","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007756","ORPHANET_ID__c":"ORPHA:409","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperqueratosis lenticularis persistans","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hiperqueratosis lenticularis persistans","Spanish_GARD_Synonym__c":"enfermedad de flegel","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":"A rare skin disease characterized by usually asymptomatic, hyperkeratotic, reddish-brown papules primarily located on the lower extremities. Histological examination shows lamellar hyperkeratosis with abrupt peripheral basket-weave orthokeratosis, irregular acanthosis, and underlying lichenoid lymphocytic infiltrate. The condition may be sporadic or familial.","Curated_Disease_Description_Source__c":"ORPHA:409","GARD_Synonym__c":"flegel disease; flegel's disease; flegels disease; hlp; hlp - hyperkeratosis lenticularis perstans; hyperkeratosis lenticularis perstans (disease); hyperkeratosis lenticularis perstans of flegel","Name":"Hyperkeratosis lenticularis perstans","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:409"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/144150","Source__c":"C0263420; MONDO:0007756; ORPHA:409","Xref__c":"OMIM:144150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28488007","Source__c":"C0263420; MONDO:0007756","Xref__c":"28488007"},{"URL__c":"https://www.orpha.net/en/disease/detail/409","Source__c":"C0263420; MONDO:0007756; ORPHA:409","Xref__c":"ORPHA:409"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120477","Source__c":"C0263420","Xref__c":"MEDGEN:120477"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0263420","Source__c":"C0263420","Xref__c":"C0263420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538377","Source__c":"MONDO:0007756","Xref__c":"C538377"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007756","Source__c":"GARD:0002824","Xref__c":"MONDO:0007756"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007570","Source__c":"C0263420","Xref__c":"HP:0007570"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:409","HPO_Frequency__c":"Frequent (30-79%)","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:409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:409","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:409","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:409","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007570","HPO_Name__c":"Hyperkeratosis lenticularis perstans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology"],"Account":["Dermatology"]},"synonyms":["flegel disease"," flegel's disease"," flegels disease"," hlp"," hlp - hyperkeratosis lenticularis perstans"," hyperkeratosis lenticularis perstans (disease)"," hyperkeratosis lenticularis perstans of flegel"]}