{"orpha":357220,"name":"Primary essential cutis verticis gyrata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357220/","orphanet_url":"https://www.orpha.net/en/disease/detail/357220","names":{"fr":{"name":"Pachydermie vorticellée primaire essentielle du cuir chevelu","synonyms":["Pachydermie plicaturée primaire essentielle du cuir chevelu"],"definition":"Un trouble rare et progressif du derme caractérisé par l'épaississement du cuir chevelu associée à une peau redondante avec des plis et des sillons cutanés, donnant un aspect cérébriforme au cuir chevelu. Les plis ne peuvent pas se corriger par la pression ou la traction. Ils sont habituellement symétriques, et s'étendent de manière antéro-postérieure du vertex à la région occipitale, et/ou de manière transverse dans la région occipitale. Les signes additionnels peuvent inclure une légère hyperkératose sous-unguéale et une onycholyse distale de la tablette unguéale des gros orteils. La maladie n'est associée ni à des changements neurologiques et ophtalmologiques, ni à des causes secondaires."},"de":{"name":"Primäre Cutis verticis gyrata, essentielle","definition":"Die primäre essentielle Cutis verticis gyrata ist eine seltene, fortschreitende Dermiserkrankung, die durch eine Verdickung der Kopfhaut gekennzeichnet ist, die zu einer Redundanz der Haut führt, wodurch Falten und Rillen entstehen, die der Kopfhaut ein zerebriformes Erscheinungsbild verleihen. Die Falten können nicht durch Druck oder Zug korrigiert werden und sind typischerweise symmetrisch und erstrecken sich anteroposterior vom Scheitel bis zum Hinterhaupt und/oder transversal in der Okzipitalregion. Zusätzliche Merkmale können eine leichte subunguale Hyperkeratose und eine distale Onycholyse der Nagelplatten der großen Zehen sein. Sie ist weder mit neurologischen und ophthalmologischen Veränderungen noch mit sekundären Ursachen verbunden."},"es":{"name":"Cutis verticis gyrata primaria esencial","definition":"Es un trastorno de la dermis progresivo y poco frecuente, que se caracteriza por un engrosamiento del cuero cabelludo que produce piel sobrante, dando lugar a pliegues y surcos que le confieren un aspecto cerebriforme. Los pliegues no se pueden corregir por presión o tracción y, por lo general, son simétricos y se extienden anteroposteriormente desde la coronilla al occipucio y/o transversalmente en la región occipital. Las características adicionales pueden incluir hiperqueratosis subungueal leve y onicólisis distal de las placas ungueales de los dedos gordos del pie. No se asocia con alteraciones neurológicas ni oftalmológicas, ni con causas secundarias."},"it":{"name":"Cutis verticis girata essenziale primitiva","definition":"La cutis verticis girata essenziale primitiva è una malattia rara progressiva del derma, caratterizzata dall'ispessimento del cuoio capelluto associato a cute ridondante che dà luogo alla formazione di pliche e solchi, che conferiscono un aspetto cerebriforme al cuoio capelluto. Le pliche, che non si correggono con la pressione né con la trazione, di solito sono simmetriche e si sviluppano in maniera antero-posteriore dal vertice all'occipite e/o trasversalmente nella regione occipitale. Altri segni clinici sono la lieve ipercheratosi subungueale e l'onicolisi distale della lamina ungueale degli alluci. Non si associa ad alterazioni neurologiche ed oculari, né a cause secondarie."},"nl":{"name":"Primaire essentiële cutis verticis gyrata","definition":"Primaire essentiële cutis verticis gyrata is een zeldzame, progressieve lederhuidstoornis die gekarakteriseerd wordt door verdikking van de hoofdhuid, wat resulteert in overtollige huid die leidt tot plooien en groeven die de hoofdhuid een cerebriform uiterlijk geven. De plooien kunnen niet gecorrigeerd worden door druk- of trekkracht, en zijn doorgaans symmetrisch en lopen van voor naar achter van de vertex tot het achterhoofd en/of transversaal op het achterhoofd. Mogelijke bijkomende kenmerken zijn onder meer milde subunguale hyperkeratose en distale onycholyse van de nagelplaten van de dikke tenen. Het is niet geassocieerd met neurologische en oftalmologische veranderingen, en ook niet met secundaire oorzaken."},"pt":{"name":"Cutis girata do vértice, essencial primária"},"pl":{"name":"Pierwotna istotna skóra kręta ciemienia"},"cs":{"name":"Primární esenciální cutis verticis gyrata"},"uk":{"name":"Первинна есенціальна складчаста пахідермія","definition":"Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes."},"zh":{"name":"原发性原位性脑回状头皮","definition":"原发性垂直性回状皮肤是一种罕见的进行性真皮疾病，其特征是头皮增厚导致皮肤冗余，从而产生褶皱和凹槽，使头皮呈现脑状外观。褶皱不能通过压力或牵引矫正，通常是对称的，从头顶到枕骨向前延伸，和/或在枕区横向延伸。其他特征可能包括轻度甲下角化和拇指甲板远端甲裂。本病与神经和眼科变化无关，也与继发性病因无关。"},"tr":{"name":"Primer temel cutis verticis gyrata"}},"xrefs":[{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"895947895"},{"source":"MONDO","code":"0018167","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707327","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":671,"name":"Primary cutis verticis gyrata","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}