{"orpha":481662,"name":"Familial Chilblain lupus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-481662/","orphanet_url":"https://www.orpha.net/en/disease/detail/481662","names":{"fr":{"name":"Lupus érythémateux familial type Chilblain","definition":"Forme monogénique rare de lupus érythémateux cutané caractérisée par l'apparition, pendant l'enfance, de papules ou de plaques érythémateuses provoquées par le froid, principalement sur les doigts, les orteils, le nez, les joues et les oreilles. Des lésions ulcéreuses récurrentes peuvent entraîner la destruction et la mutilation des tissus nécrotiques. Les patients peuvent présenter une ischémie des régions acrales affectées. Les analyses histologiques mettent en évidence des infiltrats inflammatoires cutanés périvasculaires avec des dépôts d'immunoglobulines ou de complément."},"de":{"name":"Chilblain-Lupus, familiärer","definition":"Eine seltene monogene Form des kutanen Lupus erythematodes, bei der im Säuglings- oder Kindesalter kältebedingte erythematöse Papeln oder Plaques vorwiegend an Fingern, Zehen, Nase, Wangen und Ohren auftreten. Wiederkehrende Ulzerationen der Läsionen können zu einer nekrotischen Gewebezerstörung und Verstümmelung führen. Bei den Patienten kann es zu einer Ischämie der betroffenen akralen Regionen kommen. Zu den histologischen Befunden gehören kutane perivaskuläre entzündliche Infiltrate mit Ablagerungen von Immunglobulinen oder Komplement."},"es":{"name":"Lupus pernio familiar","definition":"Es una forma monogénica poco frecuente de lupus eritematoso cutáneo caracterizada por el desarrollo de pápulas o placas eritematosas inducidas por el frío, y que se inician en la lactancia o en la infancia, predominantemente localizadas en los dedos de manos, pies, nariz, mejillas y orejas. La ulceración recurrente de las lesiones puede provocar la destrucción del tejido necrótico y mutilación. Los pacientes pueden experimentar isquemia de las zonas acras afectadas. Los hallazgos histológicos incluyen infiltrados cutáneos inflamatorios perivasculares con deposición de inmunoglobulinas o complemento."},"it":{"name":"Lupus familiare da geloni","definition":"Si tratta di una forma monogenica rara di lupus eritematoso cutaneo, caratterizzata da papule o placche eritematose indotte dal freddo, che esordiscono nella prima infanzia o nell'infanzia e si localizzano prevalentemente sulle dita delle mani e dei piedi, sul naso, sulle guance e sulle orecchie. L'ulcerazione ricorrente delle lesioni può causare la distruzione e la mutilazione del tessuto necrotico. Può associarsi all'ischemia delle regioni acrali colpite. L'esame istologico mostra infiltrati infiammatori perivascolari cutanei con depositi di immunoglobuline o del complemento."},"nl":{"name":"Familiale Chilblain lupus","definition":"Een zeldzame monogene vorm van cutane lupus erythematosus, gekarakteriseerd door aanvang in de zuigelingentijd of kindertijd van door koude geïnduceerde erythemateuze papels of plaques op voornamelijk vingers, tenen, neus, wangen, en oren. Recidiverende ulceratie van laesies kan leiden tot necrotische destructie en mutilatie van weefsel. Patiënten ervaren mogelijk ischemie van aangetaste acrale gebieden. Histologische bevindingen zijn onder meer cutane perivasculaire inflammatoire infiltraten met afzetting van immunoglobulinen of complement."},"pt":{"name":"Lupus eritematoso familiar tipo Chiblain"},"pl":{"name":"Rodzinny toczeń odmrozinowy"},"cs":{"name":"Familiární omrzlinový lupus"},"uk":{"name":"Сімейний холодовий вовчак","definition":"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement."},"zh":{"name":"家族性雪白狼疮"},"tr":{"name":"Ailesel Chilblain Lupus"}},"xrefs":[{"source":"OMIM","code":"610448","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614415","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L93.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB51.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5688224","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090201","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]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"STING1","name":"stimulator of interferon response cGAMP interactor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27566796[PMID]","hgnc":"27962","ensembl":"ENSG00000184584","omim":"612374","loci":["5q31.2"]},{"symbol":"SAMHD1","name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27566796[PMID]","hgnc":"15925","ensembl":"ENSG00000101347","omim":"606754","loci":["20q11.23"]},{"symbol":"TREX1","name":"three prime repair exonuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27566796[PMID]","hgnc":"12269","ensembl":"ENSG00000213689","omim":"606609","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27566796[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27566796[PMID]"}],"phenotypes":null}