{"orpha":671,"name":"Primary cutis verticis gyrata","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-671/","orphanet_url":"https://www.orpha.net/en/disease/detail/671","names":{"fr":{"name":"Pachydermie vorticellée primaire du cuir chevelu","synonyms":["Pachydermie plicaturée primaire du cuir chevelu"],"definition":"La pachydermie vorticellée primaire du cuir chevelu est une maladie cutanée progressive affectant surtout les hommes et caractérisée par une hypertrophie et un épaississement de la peau du cuir chevelu, formant des sillons convolutés avec des replis cutanés cérébriformes profonds et douloureux. Les cheveux sont généralement normaux au niveau des sillons et clairsemés au niveau des plis. La maladie peut être isolée (pachydermie vorticellée primaire essentielle du cuir chevelu) ou associée à d'autres anomalies telles qu'une déficience intellectuelle, une épilepsie, une cataracte, une cécité et une surdité (pachydermie vorticellée primaire non essentielle du cuir chevelu)."},"de":{"name":"Cutis verticis gyrata, primäre","definition":"Die Cutis verticis gyrata (CVG) ist eine progrediente Hautkrankheit, von der vor allem Männer betroffen sind. Die Kopfhaut ist hypertroph und verdickt und bildet gewundene Furchen mit tiefem weichen hirnartigen Hautfalten. Die Haare sind in den Furchen in der Regel normal und auf den Falten spärlich. Die CVG kann isoliert (essentielle CVG) oder in Verbindung mit anderen Anomalien (intellektuelles Defizit, Epilepsie, Katarakt, Blindheit, Taubheit (nicht-essentielle CVG)) auftreten."},"es":{"name":"Cutis verticis gyrata primaria","definition":"Es un trastorno cutáneo progresivo que afecta sobre todo a varones y que se caracteriza por hipertrofia y engrosamiento de la piel del cuero cabelludo formando arrugas intrincadas con pliegues cutáneos profundos, blandos y cerebriformes. El pelo suele ser normal en las arrugas y escaso en los pliegues. Puede ser aislado o asociado a otras anomalías como déficit intelectual, epilepsia, cataratas, ceguera, y sordera."},"it":{"name":"Cutis verticis gyrata primitiva","definition":"La cutis verticis gyrata (CVG) è una malattia cutanea progressiva, che interessa prevalentemente i maschi; è caratterizzata da ipertrofia e ispessimento della cute del cuoio capelluto, che provocano la formazione di solchi a spirale con pieghe cutanee cerebriformi profonde. I capelli sono di solito normali sui solchi e radi sulle pieghe. La CVG può essere isolata (CVG essenziale) o associata ad altre patologie, come il deficit cognitivo, l'epilessia, la cataratta, la cecità e la sordità (CVG non essenziale)."},"nl":{"name":"Primaire cutis verticis gyrata","definition":"Een progressieve cutane aandoening die voornamelijk mannen treft en gekarakteriseerd wordt door hypertrofie en verdikking van hoofdhuid die spiraalvormige groeven met diepe, zachte, en cerebriforme huidplooien ontwikkelt. Haar is doorgaans normaal in de groeven en schaars op de plooien. Het kan geïsoleerd voorkomen of geassocieerd zijn met andere afwijkingen zoals intellectuele beperking, epilepsie, cataract, blindheid, en doofheid."},"pt":{"name":"Cutis verticis gyrata primária"},"pl":{"name":"Pierwotna skóra kręta ciemienia"},"cs":{"name":"Primární cutis verticis gyrata"},"uk":{"name":"Складчаста пахідермія первинна","definition":"A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness."},"zh":{"name":"原发性回状颅皮"},"tr":{"name":"Primer cutis verticis gyrata"}},"xrefs":[{"source":"ICD-11","code":"EE7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"71926572"},{"source":"MONDO","code":"0019033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19033","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263417","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]}],"children":[{"orpha":357220,"name":"Primary essential cutis verticis gyrata","type":"Disease"},{"orpha":357225,"name":"Primary non-essential cutis verticis gyrata","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}