{"Name":"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome","DiseaseID__c":"GARD:0017764","id":17764,"encodedName":"peeling-skin-leukonuchia-acral-punctate-keratoses-cheilitis-knuckle-pads-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome","Xref_IDs__c":"C4225381; DOID:0070526; MEDGEN:902464; MONDO:0014574; OMIM:616295; ORPHA:444138","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:444138","Disease_Description__c":"A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis, and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.","GARD_Name__c":"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome","GARD_Synonym__c":"peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome; peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome; plack syndrome","Curated_Disease_Description_Source__c":"ORPHA:444138","Curated_Disease_Description__c":"A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:444138","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014574","ORPHANET_ID__c":"ORPHA:444138","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de descamación cutánea-leuconiquia-queratosis punctata acral-queilitis-almohadillas de nudillo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de descamación cutánea-leuconiquia-queratosis punctata acral-queilitis-almohadillas de nudillo","Spanish_GARD_Synonym__c":"síndrome plack","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 genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.","Curated_Disease_Description_Source__c":"ORPHA:444138","GARD_Synonym__c":"peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads; peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome; peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome; plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome; plack syndrome","Name":"Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrom","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:444138"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225381","Source__c":"C4225381","Xref__c":"C4225381"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=902464","Source__c":"C4225381","Xref__c":"MEDGEN:902464"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070526","Source__c":"MONDO:0014574","Xref__c":"DOID:0070526"},{"URL__c":"https://www.orpha.net/en/disease/detail/444138","Source__c":"C4225381; MONDO:0014574; ORPHA:444138","Xref__c":"ORPHA:444138"},{"URL__c":"https://www.omim.org/entry/616295","Source__c":"C4225381; MONDO:0014574; ORPHA:444138","Xref__c":"OMIM:616295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237509001","Source__c":"C4225381","Xref__c":"1237509001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014574","Source__c":"GARD:0017764","Xref__c":"MONDO:0014574"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAST","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Detachment of the nail from the nail bed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001806","HPO_Synonym__c":"Detachment of nail; Oncholysis","HPO_Name__c":"Onycholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"White discoloration of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001820","HPO_Synonym__c":"White discoloration of nails","HPO_Name__c":"Leukonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007530","HPO_Name__c":"Punctate palmoplantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032541","HPO_Synonym__c":"DDN; Dorsal dupuytren nodules; Knuckle pads on dorsal aspect of finger joints","HPO_Name__c":"Knuckle pad","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of inflammation of the lips involving one or both of the corners of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030318","HPO_Synonym__c":"Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth","HPO_Name__c":"Angular cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickened white patch on the oral mucosa that cannot be rubbed off.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002745","HPO_Synonym__c":"leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque","HPO_Name__c":"Oral leukoplakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100792","HPO_Name__c":"Acantholysis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007421","HPO_Name__c":"Telangiectases of the cheeks","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads"," peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"," peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome"," peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome"," plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome"," plack syndrome"]}