{"Name":"PENS syndrome","DiseaseID__c":"GARD:0013447","id":13447,"encodedName":"pens-syndrome","IsDeleted":false,"Disease_Name_Full__c":"PENS syndrome","Xref_IDs__c":"C4749916; MEDGEN:1654469; MONDO:0017785; ORPHA:313936","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017785","Disease_Description__c":"PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.","GARD_Name__c":"PENS syndrome","GARD_Synonym__c":"papular epidermal nevi with skyline basal cell layers syndrome; pens (papular epidermal nevi with skyline basal cell layers) syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"PENS syndrome is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems. The skin lesions appear as small, slightly scaly, pimples (papules) made of the thickened outer layer of the skin (hyperkerotosis) with a rough, flat surface. The skin lesions may be visible at birth or soon after birth. There may be one lesion or multiple lesions anywhere on the body. The color of the skin lesions varies from white to brown and the shape may vary as well. Neurological symptoms, such as mild intellectual disability, seizures, and delayed development of mental and movement abilities (psychomotor delay), are present in about 50% of the cases. Psychomotor delay may appear as clumsiness or difficulty playing sports. Deafness, unusual facial features, and genital birth defects, such as hypospadius or a curved penis, have been described in a few cases. The diagnosis of PENS may be confirmed by a biopsy of the skin lesion and/or examination of the skin lesion and surrounding skin under a special microscope (dermoscopy). When there are four or more skin lesions, examination for neurological symptoms may be suggested. The cause of the PENS is not known, but there are several cases where more than one member of a family is affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:313936","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017785","ORPHANET_ID__c":"ORPHA:313936","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome pens","Spanish_Description_Source__c":"ORPHA:313936","Spanish_Description__c":"Es un síndrome neurocutáneo, genético y poco frecuente, caracterizado por múltiples pápulas y placas queratósicas de pequeño tamaño, blanquecinas o amarillentas redondeadas o policíclicas irregulares, con un aspecto ''similar a joyas'' y de superficie rugosa, distribuidas al azar y típicamente localizadas en el tronco y en las extremidades proximales, asociadas a alteraciones neurológicas de intensidad variable, incluyendo retraso psicomotor, epilepsia, dificultades del habla y del lenguaje y trastorno por déficit de atención e hiperactividad. También se ha asociado a torpeza, dislexia y anomalías oftalmológicas.","Spanish_Disease_Name__c":"síndrome pens","Spanish_GARD_Synonym__c":"síndrome de nevo epidérmico papuloso con capas de células basales 'en horizonte'","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":"PENS syndrome is a very rare type of keratinocytic epidermal nevi that includes a specific type of skin lesion and can be associated with other birth defects and neurological problems. The skin lesions appear as small, slightly scaly, pimples (papules) made of the thickened outer layer of the skin (hyperkerotosis) with a rough, flat surface. The skin lesions may be visible at birth or soon after birth. There may be one lesion or multiple lesions anywhere on the body. The color of the skin lesions varies from white to brown and the shape may vary as well. Neurological symptoms, such as mild intellectual disability, seizures, and delayed development of mental and movement abilities (psychomotor delay), are present in about 50% of the cases. Psychomotor delay may appear as clumsiness or difficulty playing sports. Deafness, unusual facial features, and genital birth defects, such as hypospadius or a curved penis, have been described in a few cases. The diagnosis of PENS may be confirmed by a biopsy of the skin lesion and/or examination of the skin lesion and surrounding skin under a special microscope (dermoscopy). When there are four or more skin lesions, examination for neurological symptoms may be suggested. The cause of the PENS is not known, but there are several cases where more than one member of a family is affected.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"papular epidermal nevi with skyline basal cell layers syndrome; pens (papular epidermal nevi with skyline basal cell layers) syndrome","Name":"PENS syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Nevus Outreach, Inc.","Website__c":"https://www.nevus.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":"Infancy","Provided_By__c":"ORPHA:313936"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:313936"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1654469","Source__c":"C4749916","Xref__c":"MEDGEN:1654469"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749916","Source__c":"C4749916","Xref__c":"C4749916"},{"URL__c":"https://www.orpha.net/en/disease/detail/313936","Source__c":"C4749916; MONDO:0017785; ORPHA:313936","Xref__c":"ORPHA:313936"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017785","Source__c":"GARD:0013447","Xref__c":"MONDO:0017785"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771473004","Source__c":"C4749916","Xref__c":"771473004"}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["papular epidermal nevi with skyline basal cell layers syndrome"," pens (papular epidermal nevi with skyline basal cell layers) syndrome"],"spanishId":13448,"spanishName":"sindrome-de-nevus-epidermico-papuloso-con-capas-de-celulas-basales-en-horizonte"}