{"orpha":542643,"name":"Livedoid vasculopathy","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Livedo reticularis with summer ulcerations","Milian atrophie blanche","Segmental hyalinizing vasculitis"],"definition":"A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-542643/","orphanet_url":"https://www.orpha.net/en/disease/detail/542643","names":{"fr":{"name":"Vasculopathie livédoïde","synonyms":["Atrophie blanche de Milian","Vascularite hyalinisante segmentaire","Vascularite livédoïde avec ulcérations estivales"],"definition":"Maladie vasculaire rare de la peau caractérisée par une thrombose focale non inflammatoire récurrente des vaisseaux du derme, principalement aux extrémités inférieures, entraînant une réponse cutanée se manifestant par un prurit et des papules douloureuses et des plaques érythémateuses. Les lésions évoluent en vésicules ou bulles hémorragiques, qui se rompent et se transforment en ulcères douloureux fusionnant en ulcérations réticulées, confluentes, géométriques et douloureuses. Pendant une période de quelques mois, les ulcérations se transforment en cicatrices atrophiques « porcelainées » (dites atrophie blanche) avec télangiectasies ponctuées. Lorsque la maladie est active, des lésions à différents stades coexistent."},"de":{"name":"Livedovaskulopathie","synonyms":["Atrophie blanche Milian","Atrophie blanche-Vaskulitis","Livedo reticularis mit Sommerulzerationen","Segmentale hyalinisierende Vaskulitis"],"definition":"Eine seltene vaskuläre Hauterkrankung, die durch rezidivierende fokale, nicht entzündliche Thrombosen der dermalen Venen, vorwiegend an den unteren Extremitäten, gekennzeichnet ist und zu einer Hautreaktion führt, die sich als Juckreiz und schmerzhafte Papeln und erythematöse Plaques äußert. Die Läsionen entwickeln sich zu hämorrhagischen Bläschen oder Bullae, die aufplatzen und zu schmerzhaften Geschwüren werden, die in netzartige, konfluierende, geometrische und schmerzhafte Ulzerationen übergehen. Über einen Zeitraum von einigen Monaten verwandeln sich die Ulzerationen in porzellanweiße, atrophische Narben mit punktförmigen Teleangiektasien (so genannte Atrophie blanche). Bei aktiver Erkrankung treten Läsionen in verschiedenen Stadien nebeneinander auf."},"es":{"name":"Vasculopatía livedoide","synonyms":["Atrofia blanca de Milian","Livedo reticularis con ulceraciones de verano","Vasculitis hialinizante segmentaria"],"definition":"Es una enfermedad vascular cutánea poco frecuente caracterizada por una trombosis focal no inflamatoria recurrente de las vénulas dérmicas, predominantemente de las extremidades inferiores, que se manifiesta en la piel como prurito, pápulas dolorosas y placas eritematosas. Las lesiones evolucionan a vesículas hemorrágicas o ampollas, que se rompen dando lugar a unas úlceras dolorosas que se fusionan en ulceraciones reticuladas, confluentes, geométricas y dolorosas. En el trascurso de unos pocos meses, las ulceraciones evolucionan a un tejido cicatricial atrófico de color blanco marfil con unas telangiectasias puntiformes (conocida como atrofia blanca). En la enfermedad activa coexisten lesiones en diferentes estadios."},"it":{"name":"Vasculopatia livedoide","definition":"Si tratta di una malattia vascolare rara della cute, caratterizzata da trombosi focale non infiammatoria ricorrente delle venule del derma, che interessa prevalentemente gli arti inferiori causando prurito, papule dolorose e placche eritematose. Le lesioni evolvono verso le vescicole o le bolle emorragiche, che si rompono e si trasformano in ulcere dolorose che danno vita a lesioni reticolate, confluenti, geometriche e dolorose. Nell'arco di qualche mese, le ulcere si trasformano in cicatrici atrofiche bianco porcellana con teleangectasia puntata (la cosiddetta atrofia bianca). Nella fase attiva della malattia coesistono lesioni di stadio diverso."},"nl":{"name":"Livedoïde vasculopathie","synonyms":["Atrophie blanche van Milian","Livedo reticularis met ulceraties in de zomer","Segmentale hyaliniserende vasculitis"],"definition":"Een zeldzame vasculaire aandoening van huid, gekarakteriseerd door recidiverende focale, niet-inflammatoire trombose van venulen van dermis, vooral van onderste ledematen, met als gevolg een cutane respons die zich manifesteert als pruritus, pijnlijke papels en erythemateuze plaques. De laesies evolueren naar hemorragische vesikels of blaren, die scheuren en verworden tot pijnlijke zweren die samensmelten tot reticulaire, confluente, geometrische, en pijnlijke ulceraties. Gedurende een periode van enkele maanden veranderen de ulceraties naar porseleinwitte atrofische littekens met puntvormige teleangiëctasie (zogenaamde 'atrophie blanche'). Bij actieve ziekte komen laesies in verschillende stadia samen voor."},"pt":{"name":"Vasculopatia livedóide"},"pl":{"name":"Waskulopatia sinicza","synonyms":["Livedo reticularis with summer ulcerations","Milian atrophie blanche","Segmental hyalinizing vasculitis"]},"cs":{"name":"Livedoidní vaskulopatie","synonyms":["Milianova bílá atrofie","Segmentální hyalinizující vaskulitida","Livedo reticularis s letními ulceracemi"]},"uk":{"name":"Ліведоїдна васкулопатія","synonyms":["Ліведо ретикулярна з літніми виразками","Milian atrophie blanche","Сегментарний гіалінізуючий васкуліт"],"definition":"A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist."},"zh":{"name":"青斑样血管病变","synonyms":["网状青斑伴夏季溃疡"]},"tr":{"name":"Livedoid vaskülopati","synonyms":["Milian beyaz atrofi","Segmental hiyalinize vaskülit","Yaz ülseri ile seyreden Livedo retikülaris"]}},"xrefs":[{"source":"ICD-10","code":"L95.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EF50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1237292304"},{"source":"MONDO","code":"0025514","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000090122","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343081","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12784","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067527","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"4830097[PMID]_21184847[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-31","source":"33219608[PMID]_32644463[PMID]_27297279[PMID]_36262273[PMID]_31009111[PMID]","terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033260","label":"Livedo racemosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025016","label":"Abnormal capillary morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005339","label":"Abnormality of complement system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003029","label":"Enlargement of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007572","label":"Hyperpigmented streaks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040224","label":"Abnormality of fibrinolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410008","label":"Abnormality of the peripheral nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025343","label":"Lupus anticoagulant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031365","label":"Macular purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032018","label":"Multiple mononeuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001976","label":"Reduced antithrombin III activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040248","label":"Reduced plasminogen activator inhibitor 1 activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005543","label":"Reduced protein C activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004855","label":"Reduced protein S activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031190","label":"Superficial dermal perivascular inflammatory infiltrate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Very rare (<4-1%)","criteria":null}]}}