{"orpha":324636,"name":"Autoerythrocyte sensitization syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GDS","Gardner-Diamond syndrome","Painful bruising syndrome","Psychogenic purpura"],"definition":"A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324636/","orphanet_url":"https://www.orpha.net/en/disease/detail/324636","names":{"fr":{"name":"Syndrome de sensibilisation aux érythrocytes","synonyms":["Syndrome de Gardner-Diamond","Syndrome des ecchymoses douloureuses","Purpura psychogène"],"definition":"Maladie auto-immune rare affectant la peau, caractérisée par des lésions cutanées inflammatoires oedémateuses douloureuses, isolées ou multiples, survenant par des épisodes récurrents et évoluant vers des ecchymoses dans les 24 heures, en raison de l'autosensibilisation à un composant du stroma desérythrocytes du patient. Le développement des lésions est généralement précédé d'un stress émotionnel ou physique, suivi d'un stade prodromique avec fatigue ou malaise. Les membres inférieurs et le tronc sont les parties de l'organisme les plus fréquemment touchés. Parmi d'autres signes cliniques on observe notamment, la fièvre, l'arthralgie, la myalgie, les maux de tête, les problèmes gastro-intestinaux ou l'hématurie et l'épistaxis. La maladie se manifeste principalement chez les femmes."},"de":{"name":"Erythrozytenautosensibilisierung","synonyms":["Ekchymosen-Syndrom, schmerzhaftes","GDS","Gardner-Diamond-Syndrom","Psychogene Purpura"],"definition":"Eine seltene Autoimmunerkrankung mit Hautbeteiligung, die durch wiederkehrende Episoden mit isolierten oder multiplen schmerzhaften, ödematösen, entzündlichen Hautläsionen gekennzeichnet ist, die innerhalb von 24 Stunden zu Ekchymosen fortschreiten und auf eine Autosensibilisierung gegenüber einer stromalen Komponente der eigenen Erythrozyten des Patienten zurückzuführen sind. Der Entwicklung der Läsionen geht in der Regel eine emotionale oder körperliche Belastung voraus, gefolgt von einem Prodromalstadium mit Müdigkeit oder Unwohlsein. Am häufigsten sind die unteren Gliedmaßen und der Rumpf betroffen. Zu den Begleitmerkmalen können unter anderem Fieber, Arthralgie, Myalgie, Kopfschmerzen, gastrointestinale Probleme oder Hämaturie und Epistaxis gehören. Die Krankheit tritt überwiegend bei Frauen auf."},"es":{"name":"Síndrome de sensibilización autoeritrocitaria","synonyms":["GDS","Púrpura psicógena","Síndrome de Gardner-Diamond","Síndrome de hematoma doloroso"],"definition":"Es una enfermedad autoinmune poco frecuente con afectación cutánea caracterizada por episodios recurrentes consistentes en lesiones cutáneas inflamatorias edematosas dolorosas aisladas o múltiples que progresan a equimosis en 24 horas, debido a la autosensibilización a un componente del estroma de los propios eritrocitos del paciente. El desarrollo de las lesiones suele estar precedido por estrés emocional o físico, seguido de una etapa prodrómica con fatiga o malestar. Las extremidades inferiores y el tronco son los sitios más frecuentemente afectados. Las características acompañantes pueden incluir fiebre, artralgia, mialgia, cefalea, problemas gastrointestinales o hematuria y epistaxis, entre otros. La enfermedad se presenta predominantemente en mujeres."},"it":{"name":"Sindrome da sensibilizzazione autoeritrocitaria","synonyms":["GDS","Porpora psicogena","Sindrome da ecchimosi dolorose","Sindrome di Gardner-Diamond"],"definition":"Si tratta di una malattia autoimmune rara con interessamento della cute, caratterizzata da lesioni cutanee ricorrenti, edematose e dolorose, isolate o multiple, che progrediscono verso le ecchimosi nell'arco di 24 ore, secondarie all'autosensibilizzazione ad un componente dello stroma degli eritrociti del paziente. In genere la comparsa delle lesioni è preceduta da uno stress emotivo o fisico, ed è seguita da una fase prodromica caratterizzata da affaticamento o malessere. Gli arti inferiori e il tronco sono maggiormente interessati. I pazienti possono presentare febbre, artralgia, mialgia, cefalea, disturbi gastrointestinali, ematuria ed epistassi. La malattia colpisce prevalentemente le femmine."},"nl":{"name":"Auto-erytrocyt sensibiliseringssyndroom","synonyms":["GDS","Gardner-Diamondsyndroom","Pijnlijke blauwe plekken-syndroom","Psychogene onderhuidse bloedingen","Psychogene purpura"],"definition":"Een zeldzame auto-immuunziekte met betrokkenheid van huid, gekarakteriseerd door recidiverende episodes van geïsoleerde of multipele pijnlijke oedemateuze inflammatoire huidlaesies die binnen de 24 uur evolueren tot ecchymose, ten gevolge van autosensitisatie voor een stromale component van de eigen erytrocyten van de patiënt. Ontwikkeling van de laesies wordt meestal voorafgegaan door emotionele of fysieke stress, gevolgd door een prodromale fase met vermoeidheid of malaise. Lichaamsdelen die het vaakst betrokken zijn, zijn ledematen en romp. Mogelijke bijkomende kenmerken zijn onder meer koorts, artralgie, myalgie, hoofdpijn, gastro-intestinale problemen, of hematurie en epistaxis. De ziekte komt vooral voor bij vrouwen."},"pt":{"name":"Síndrome de sensibilização auto-eritrocitária"},"pl":{"name":"Zespół autosensytyzacji erytrocytów","synonyms":["GDS","plamica psychogenna","Zespół bolesnych wybroczyn","Zespół Gardnera i Diamonda"]},"cs":{"name":"Syndrom autoerytrocytární senzitizace","synonyms":["GDS","Psychogenní purpura","Gardnerův-Diamondův syndrom","Syndrom bolestivých pohmožděnin","Gardner-Diamondův syndrom"]},"uk":{"name":"Синдром аутоеритроцитарної сенсибілізації","synonyms":["Синдром Гарднера-Даймонда","GDS","Синдром болісних синців","Психогенна пурпура"],"definition":"A rare autoimmune disease with skin involvement characterized by recurrent episodes with isolated or multiple painful edematous inflammatory skin lesions progressing to ecchymoses within 24 hours, due to autosensitization to a stromal component of the patient's own erythrocytes. The development of the lesions is usually preceded by emotional or physical stress, followed by a prodromal stage with fatigue or malaise. Lower limbs and trunk are the most frequently involved sites. Accompanying features may include fever, arthralgia, myalgia, headache, gastrointestinal problems, or hematuria and epistaxis, among others. The disease occurs predominantly in women."},"zh":{"name":"自体红细胞致敏综合征","synonyms":["疼痛性瘀斑综合征"],"definition":"一种罕见的自身免疫性疾病，皮肤受累，由于对患者自身红细胞的基质成分过敏，表现为反复发作的孤立或多个疼痛的水肿性炎性皮损，在24小时内发展为瘀斑。病变的发展通常由情绪或生理压力诱发，随后出现伴疲劳或不适的前驱阶段。下肢和躯干是最常见的受累部位。伴随的特征可能包括发烧、关节痛、肌痛、头痛、胃肠道问题或血尿和鼻出血等。这种病主要见于女性。"},"tr":{"name":"Otoritrosit sensitizasyon sendromu","synonyms":["GDS","Psikojenik purpura","Gardner-Diamond sendromu","Ağrılı morarma sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D69.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"347603209"},{"source":"MONDO","code":"0017943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0301928","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6481","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078888","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":315350,"name":"Autoimmune disease with skin involvement","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":170.0,"area":"Worldwide","status":"Validated","source":"19192020[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-05","source":"29644197[PMID]_19192020[PMID]_28363337[PMID]","terms":[{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012076","label":"Borderline personality disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008352","label":"Impaired platelet adhesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033676","label":"Posttraumatic stress symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Very rare (<4-1%)","criteria":null}]}}