{"orpha":157997,"name":"Benign cephalic histiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157997/","orphanet_url":"https://www.orpha.net/en/disease/detail/157997","names":{"fr":{"name":"Histiocytose céphalique bénigne","definition":"Histiocytose non langerhansienne rare caractérisée par de multiples petites papules de couleur rouge-jaune ou brun se déclarant principalement dans la région de la tête et du cou. La caractéristique histopathologique de ces lésions, qui finissent par guérir spontanément, est une prolifération dermique d'histiocytes comportant des structures intracytoplasmiques en forme de virgule, des vésicules enrobées et des structures ressemblant à des desmosomes. Les granules de Birbeck sont absents. La maladie se manifeste généralement chez les jeunes enfants."},"de":{"name":"Histiozytose, benigne zephale","definition":"Eine Non-Langerhans-Zell-Histiozytose, die durch multiple kleine gelblich-rote oder braune Papeln gekennzeichnet ist, die zunächst vorwiegend in der Kopf- und Halsregion auftreten. Das histopathologische Merkmal dieser schließlich selbstheilenden Läsionen ist eine dermale Proliferation von Histiozyten mit intrazytoplasmatischen kommaförmigen Körpern, beschichteten Bläschen und desmosomenartigen Strukturen. Birbeck-Granula sind nicht vorhanden. Die Krankheit tritt typischerweise bei jungen Kindern auf."},"es":{"name":"Histiocitosis cefálica benigna","definition":"Es una histiocitosis poco frecuente de células no-Langerhans caracterizada por múltiples pápulas pequeñas de color rojo-amarillento o marrón que en un inicio erupcionan predominantemente en la región de la cabeza y el cuello. La característica histopatológica distintiva de estas lesiones de remisión espontanea es una proliferación dérmica de histiocitos con cuerpos intracitoplasmáticos en forma de coma, vesículas recubiertas y estructuras tipo desmosomas. Los gránulos de Birbeck están ausentes. Por lo general, la enfermedad debuta en la infancia temprana."},"it":{"name":"Istiocitosi cefalica benigna","definition":"Si tratta di un'istiocitosi rara a cellule non-Langerhans, caratterizzata da papule multiple giallognole-rosse o marroni di piccole dimensioni, inizialmente localizzate soprattutto sulla testa e sul collo. Dal punto di vista istopatologico, le lesioni, che guariscono spontaneamente, sono caratterizzate da una proliferazione dermica di istiociti con corpi intracitoplasmatici a forma di virgola, vescicole ricoperte e strutture simil-desmosoma, in assenza di granuli di Birbeck. Di solito la malattia esordisce nella prima infanzia."},"nl":{"name":"Benigne cefale histiocytose","definition":"Een zeldzame niet-Langerhanscelhistiocytose, gekarakteriseerd door meerdere kleine, gelig-rode of bruine papels die initieel vooral voorkomen op hoofd en nek. Het histopathologische kenmerk van deze op termijn zelfhelende laesies is een dermale proliferatie van histiocyten met intracytoplasmatische komma-vormige lichaampjes, gecoate vesikels, en desmosoom-achtige structuren. Birbeck-granulen zijn afwezig. De ziekte komt doorgaans voor bij jonge kinderen."},"pt":{"name":"Histiocitoma cefálico benigno"},"pl":{"name":"Łagodna histiocytoza głowy"},"cs":{"name":"Benigní cefalická histiocytóza"},"uk":{"name":"Доброякісний гістіоцитоз головного мозку","definition":"A rare non-Langerhans cell histiocytosis characterized by multiple small yellowish-red or brown papules initially erupting predominantly in the head and neck region. The histopathological hallmark of these eventually self-healing lesions is a dermal proliferation of histiocytes with intracytoplasmic comma-shaped bodies, coated vesicles, and desmosome-like structures. Birbeck granules are absent. The disease typically occurs in young children."},"zh":{"name":"良性头部组织细胞增多症","definition":"一种罕见的非朗格汉斯细胞组织细胞增多症，其特征是多个小的黄红色或棕色丘疹，最初主要发生在头颈部。这些最终自我愈合病灶的组织病理学特征是真皮组织细胞增生，伴胞浆内逗号状小体、包被小泡和桥粒样结构。Birbeck颗粒缺失。该疾病通常发生在年幼的儿童中。"},"tr":{"name":"Selim sefalik histiyositoz"}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE81","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"339468256"},{"source":"MONDO","code":"0015533","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0347403","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-26","source":"7741553[PMID]_6721528[PMID]_3740882[PMID]","terms":[{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null}]}}