{"orpha":3406,"name":"Ulerythema ophryogenesis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3406/","orphanet_url":"https://www.orpha.net/en/disease/detail/3406","names":{"fr":{"name":"Ulérythème ophryogène","definition":"L'ulérythème ophryogène se caractérise par la présence de papules kératosiques inflammatoires sur le visage, qui peuvent évoluer en cicatrices, atrophie et alopécie. La prévalence de l'ulérythème ophryogène est inconnue mais cette affection, qui touche principalement les enfants et les jeunes adultes, est rare. Un érythème avec une légère hyperkératose des follicules pileux, donnant des papules à l'aspect rugueux est observé sur les joues et la queue des sourcils. Il peut occasionnellement s'étendre au scalp adjacent, aux oreilles, au front, et rarement à la surface des extenseurs des membres. Les symptômes diminuent avec l'âge, bien que la perte de la queue des sourcils puisse se produire. De nombreux cas sont sporadiques ; une transmission autosomique dominante a aussi été rapportée. Il n'y a pas de traitement spécifique, mais les patients doivent éviter une exposition au soleil sans protection solaire."},"de":{"name":"Ulerythema ophryogenes","definition":"Das Ulerythema ophryogenes ist charakterisiert durch entzündliche keratotische Papeln im Gesicht, die in Narben, Atrophien und Alopezie übergehen können. Die Prävalenz der Krankheit ist nicht bekannt, aber die Krankheit, von der vor allem Kinder und junge Erwachsene betroffen sind, ist selten. Ein Erythem mit leichter Hyperkeratose der Haarfollikel und daraus resultierenden rauhen Papeln treten an den Wangen und im äußeren Anteil der Augenbrauen auf. Gelegentlich breitet sich die Krankheit zur benachbarten Kopfhaut, zu den Ohren, der Stirn und selten zu den Streckseiten der Gliedmaßen aus. Mit zunehmendem Alter gehen die Symptome zurück, aber ein Verlust der lateralen Anteile der Augenbrauen kann bleiben. Viele Fälle sind sporadisch, es wurde aber auch über autosomal-dominante Vererbung berichtet. Eine besondere Therapie gibt es nicht, die Patienten sollten jedoch Sonnenexpostion ohne UV-Schutz vermeiden."},"es":{"name":"Uleritema ofriógenes","definition":"Es una enfermedad caracterizada por pápulas queratósicas inflamatorias presentes en la cara, que pueden derivar en cicatrices, atrofia y alopecia. La prevalencia es desconocida; sin embargo, la enfermedad, que afecta principalmente a niños y a adultos jóvenes, es infrecuente. Los pacientes presentan eritema con hiperqueratosis leve de los folículos pilosos que da lugar a pápulas ásperas en las mejillas y en los aspectos laterales de las cejas. El trastorno se extiende ocasionalmente al cuero cabelludo adyacente, a los oídos y a la frente y, raramente, a la superficie extensora de las extremidades. Los síntomas remiten con la edad, aunque puede ocurrir que se pierdan los aspectos laterales de las cejas. Aunque muchos casos ocurren de forma esporádica, también se ha descrito la herencia autosómica dominante. No hay un tratamiento específico, pero los pacientes deben evitar la exposición solar sin protección frente a los rayos UV."},"it":{"name":"Uleritema ofriogene"},"nl":{"name":"Ulerythema ophryogenes","definition":"Ulerythema ophryogenes wordt gekenmerkt door inflammatoire keratotische papels op het gelaat, mogelijk gevolgd door littekens, atrofie en alopecie. De prevalentie is niet gekend, maar de ziekte, die vooral kinderen en jonge volwassenen treft, is zeldzaam. Erytheem met milde hyperkeratose van haarfollikels die resulteert in ruwe papels wordt waargenomen op wangen en laterale zijde van wenkbrauwen. De aandoening breidt soms uit naar aangrenzende scalp, oren en voorhoofd, en zelden naar strekzijden van ledematen. Met het ouder worden treedt regressie van symptomen op, hoewel verlies van laterale zijde van wenkbrauwen mogelijk is. Vele gevallen komen sporadisch voor, maar autosomaal dominante overerving werd ook reeds gerapporteerd. Er bestaat geen specifieke behandeling, maar patiënten dienen blootstelling aan de zon zonder UV-bescherming te vermijden."},"pt":{"name":"Ulerythema ophryogenesis"},"pl":{"name":"Rogowacenie mieszkowe zanikowe twarzy"},"cs":{"name":"Ulerythema ophryogenesis"},"uk":{"name":"Надбрівна ульерітема","definition":"Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection."},"zh":{"name":"眉部瘢痕性红斑"},"tr":{"name":"Üleritema ofriyogenez"}},"xrefs":[{"source":"OMIM","code":"604093","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L66.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED56","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"89812225"},{"source":"MONDO","code":"0018086","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537412","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700076","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5395","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":498,"name":"Keratosis pilaris atrophicans","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-18","source":"34630685 [PMID]_21658329[PMID]","terms":[{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001041","label":"Facial erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000306","label":"Abnormality of the chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032282","label":"Contact dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null}]}}