{"orpha":313936,"name":"PENS syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Papular epidermal nevi with skyline basal cell layers syndrome"],"definition":"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 ophthalmological abnormalities have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313936/","orphanet_url":"https://www.orpha.net/en/disease/detail/313936","names":{"fr":{"name":"Syndrome PENS","synonyms":["Syndrome de naevus épidermiques papulaires avec couche basale en palissade"],"definition":"Syndrome neurocutané rare d'origine génétique caractérisé par la présence de multiples papules et plaques épidermiques kératosiques, petites, blanchâtres à jaunâtres, de forme arrondie ou irrégulière, polycycliques, d'aspect similaire à une gemme et de surface rugueuse, situées généralement sur le tronc et les membres proximaux, réparties de façon aléatoire et associées à des anomalies neurologiques variables, notamment un retard psychomoteur, une épilepsie, des troubles de l'élocution et du langage et un trouble déficitaire de l'attention/hyperactivité. Des cas de maladresse, de dyslexie et d'anomalies ophtalmologiques ont également été rapportés."},"de":{"name":"PENS-Syndrom","synonyms":["Papuläre epidermale Nävi mit 'Skyline'-Basalzellenschicht-Syndrom"]},"es":{"name":"Síndrome PENS","synonyms":["Síndrome de nevo epidérmico papuloso con capas de células basales 'en horizonte'"],"definition":"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."},"it":{"name":"Sindrome PENS","synonyms":["Sindrome da nevi epidermici papulari con strati di cellule basali a palizzata"],"definition":"La sindrome PENS è una malattia neurocutanea genetica rara, caratterizzata dalla presenza di papule epidermiche cheratosiche multiple, distribuite casualmente, di piccole dimensioni, di colore bianco-giallastro, di forma arrotondata o policiclica irregolare, associate a placche dall'aspetto simile a gemme, con superficie ruvida, di solito localizzate sul tronco e sulla porzione prossimale degli arti. Possono associarsi anomalie neurologiche variabili, come il ritardo psicomotorio, l'epilessia, i deficit del linguaggio e dell'attenzione con iperattività. I pazienti possono anche presentare goffaggine, dislessia ed anomalie oculari."},"nl":{"name":"PENS-syndroom","synonyms":["Syndroom met papulaire epidermale naevi met skyline basaalcellagen"],"definition":"PENS-syndroom is een zeldzaam, genetisch, neurocutaan syndroom dat gekarakteriseerd wordt door de aanwezigheid van willekeurig verspreide, kleine, witte tot gelige, multipele, ronde of onregelmatig polycyclische, epidermale keratotische papels en plaques met een ''edelsteenachtig'' uiterlijk en een ruw oppervlak, typisch gesitueerd op de romp en proximale ledematen, en geassocieerd met variabele neurologische afwijkingen, waaronder psychomotorische achterstand, epilepsie, spraak- en taalstoornis, en aandachtsstoornis met hyperactiviteit. Onhandigheid, dyslexie en oftalmologische afwijkingen werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome PENS","synonyms":["Síndrome de nevo epidérmico papuloso com camadas de células basais ''no horizonte''"]},"pl":{"name":"Zespół PENS","synonyms":["Zespół grudkowego znamienia naskórkowego z \"skyline\" warstwą komórek podstawnych"]},"cs":{"name":"PENS syndrom","synonyms":["Papular epidermal nevi with skyline basal cell layers syndrome"]},"uk":{"name":"Синдром PENS","synonyms":["Папульозні епідермальні невуси з синдромом базально-клітинного шару епідермісу"],"definition":"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."},"zh":{"name":"PENS综合征","synonyms":["丘疹性表皮痣伴“天际线”样基底细胞层综合征"],"definition":"PENS综合征是一种罕见的遗传性神经皮肤综合征，其特征是随机分布、小的、白色到淡黄色、多发、圆形或不规则的表皮角化丘疹和宝石状斑块，形状呈多周期性变化，表面粗糙，通常位于躯干和近端肢体，伴多种神经异常，包括精神运动迟缓、癫痫、语言和语言障碍以及注意缺陷多动障碍。也可表现为动作笨拙，阅读障碍和语言异常。"},"tr":{"name":"PENS sendromu","synonyms":["Skyline bazal hücre tabakaları sendromu ile seyreden papüler epidermal nevüs"]}},"xrefs":[{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC00.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017785","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13447","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22414678[PMID]_21315481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}