{"orpha":90281,"name":"Discoid lupus erythematosus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90281/","orphanet_url":"https://www.orpha.net/en/disease/detail/90281","names":{"fr":{"name":"Lupus érythémateux discoïde","definition":"Forme rare de lupus érythémateux cutané chronique caractérisée par l'apparition, généralement sur les zones de la peau exposées au soleil (cuir chevelu, visage et oreilles), des papules et des plaques érythémateuses et squameuses provoquant une obstruction des follicules pileux, des modifications pigmentaires, une atrophie centrale, des cicatrices et des télangiectasies. La biopsie cutanée révèle un infiltrat lymphocytaire périvasculaire et périannexiel et une atteinte de la jonction dermo-épidermique avec épaississement de la membrane basale et une dégénérescence vacuolaire des cellules basales. Un faible pourcentage de patients peut développer un lupus érythémateux systémique."},"de":{"name":"Lupus erythematodes, diskoider","definition":"Eine seltene Form des chronischen kutanen Lupus erythematodes, die durch erythematöse, schuppende Papeln und Plaques gekennzeichnet ist, die bevorzugt an sonnenexponierten Hautstellen (Kopfhaut, Gesicht und Ohren) auftreten und Follikelverstopfung, Pigmentveränderungen sowie zentrale Atrophie, Narbenbildung und Teleangiektasien aufweisen. Die Hautbiopsie zeigt ein perivaskuläres und periadnexales lymphozytäres Infiltrat und eine Beteiligung der dermoepidermalen Grenzfläche mit Verdickung der Basalmembran und vakuolärer Degeneration der Basalzellen. Bei einem kleinen Prozentsatz der Patienten kann sich ein systemischer Lupus erythematodes entwickeln."},"es":{"name":"Lupus eritematoso discoide","definition":"Es una forma poco frecuente de lupus eritematoso cutáneo crónico caracterizado por pápulas y placas eritematosas y descamativas que aparecen preferentemente en las áreas de la piel expuestas al sol (cuero cabelludo, cara y orejas), presentando obstrucción folicular, cambios pigmentarios y atrofia central, lesiones cicatriciales y telangiectasias. La biopsia cutánea muestra infiltrado linfocítico perivascular y perianexial y afectación de la unión dermo-epidérmica con engrosamiento de la membrana basal y degeneración vacuolar de las células basales. Un pequeño porcentaje de pacientes puede desarrollar lupus eritematoso sistémico."},"it":{"name":"Lupus discoide eritematoso","definition":"Si tratta di una forma rara di lupus eritematoso cutaneo cronico, caratterizzata da papule e placche eritematose e desquamate localizzate per lo più nelle aree della cute esposte al sole (cuoio capelluto, viso e orecchie), che presentano occlusione follicolare, alterazioni della pigmentazione, atrofia centrale, cicatrici e teleangectasie. La biopsia cutanea evidenzia un infiltrato linfocitario perivascolare e periannessiale e il coinvolgimento della giunzione dermo-epidermica associato ad un ispessimento della membrana basale e alla degenerazione vacuolare delle cellule basali. Una piccola percentuale di pazienti sviluppa il lupus eritematoso sistemico."},"nl":{"name":"Discoïde lupus erythematosus","definition":"Een zeldzame vorm van chronische cutane lupus erythematosus, gekarakteriseerd door erythemateuze, schilferige papels en plaques die vooral voorkomen op delen van de huid die worden blootgesteld aan de zon (scalp, aangezicht, en oren) en die folliculaire verstopping, pigmentverandering, en centrale atrofie, littekenvorming en teleangiëctasie vertonen. Biopsie van huid toont een perivasculair en periadnexaal lymfocytair infiltraat en betrokkenheid van dermo-epidermale overgang met verdikking van basale membraan en vacuolaire degeneratie van basaalcellen. Een klein percentage van de patiënten ontwikkelt mogelijk systemische lupus erythematosus."},"pt":{"name":"Lúpus eritematoso discóide"},"pl":{"name":"Dyskoidalny toczeń rumieniowaty"},"cs":{"name":"Diskoidní lupus erythematodes"},"uk":{"name":"Дискоїдний червоний вовчак","definition":"A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus."},"zh":{"name":"盘状红斑狼疮"},"tr":{"name":"Diskoid lupus eritematozus"}},"xrefs":[{"source":"ICD-10","code":"L93.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB51.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2144907708"},{"source":"MONDO","code":"0019558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008179","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574816","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10013072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":163531,"name":"Chronic cutaneous lupus erythematosus","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.56,"area":"United States","status":"Validated","source":"19289752[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Sweden","status":"Validated","source":"21574972[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-26","source":"29630197[PMID]_28606712[PMID]_39166468[PMID]","terms":[{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000107","label":"Positive lupus band test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Very rare (<4-1%)","criteria":null}]}}