Livedoid vasculopathy
Synonyms: Livedo reticularis with summer ulcerations · Milian atrophie blanche · Segmental hyalinizing vasculitis
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Livedoid vasculopathy | Livedo reticularis with summer ulcerations · Milian atrophie blanche · Segmental hyalinizing vasculitis |
| fr | Vasculopathie livédoïde | Atrophie blanche de Milian · Vascularite hyalinisante segmentaire · Vascularite livédoïde avec ulcérations estivales |
| de | Livedovaskulopathie | Atrophie blanche Milian · Atrophie blanche-Vaskulitis · Livedo reticularis mit Sommerulzerationen · Segmentale hyalinisierende Vaskulitis |
| es | Vasculopatía livedoide | Atrofia blanca de Milian · Livedo reticularis con ulceraciones de verano · Vasculitis hialinizante segmentaria |
| it | Vasculopatia livedoide | |
| nl | Livedoïde vasculopathie | Atrophie blanche van Milian · Livedo reticularis met ulceraties in de zomer · Segmentale hyaliniserende vasculitis |
| pt | Vasculopatia livedóide | |
| pl | Waskulopatia sinicza | = en |
| cs | Livedoidní vaskulopatie | Milianova bílá atrofie · Segmentální hyalinizující vaskulitida · Livedo reticularis s letními ulceracemi |
| uk | Ліведоїдна васкулопатія | Ліведо ретикулярна з літніми виразками · Milian atrophie blanche · Сегментарний гіалінізуючий васкуліт |
| zh | 青斑样血管病变 | 网状青斑伴夏季溃疡 |
| tr | Livedoid vaskülopati | Milian beyaz atrofi · Segmental hiyalinize vaskülit · Yaz ülseri ile seyreden Livedo retikülaris |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L95.0 | E | specific | validated |
| ICD-11 | EF50 | E | specific | validated |
| MONDO | 0025514 | E | validated | |
| MeSH | D000090122 | E | validated | |
| UMLS | C0343081 | E | validated | |
| GARD | 12784 | E | validated | |
| MedDRA | 10067527 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:496924Non-inflammatory vasculopathy
rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | United States | Value and class | Validated | 4830097[PMID]_21184847[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
49 annotations · validated 2024-01-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0033260 | Livedo racemosa | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0025016 | Abnormal capillary morphology | |
| HP:0001977 | Abnormal thrombosis | |
| HP:0005339 | Abnormality of complement system | |
| HP:0001903 | Anemia | |
| HP:0001075 | Atrophic scars | |
| HP:0002960 | Autoimmunity | |
| HP:0000965 | Cutis marmorata | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0003029 | Enlargement of the ankles | |
| HP:0100724 | Hypercoagulability | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0007572 | Hyperpigmented streaks | |
| HP:0012514 | Lower limb pain | |
| HP:0010741 | Pedal edema | |
| HP:0001058 | Poor wound healing | |
| HP:0001581 | Recurrent skin infections | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0002619 | Varicose veins | |
| Occasional (29-5%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0040224 | Abnormality of fibrinolysis | |
| HP:0410008 | Abnormality of the peripheral nervous system | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0000819 | Diabetes mellitus | |
| HP:0031364 | Ecchymosis | |
| HP:0030350 | Erythematous papule | |
| HP:0100963 | Hyperesthesia | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0000822 | Hypertension | |
| HP:0025343 | Lupus anticoagulant | |
| HP:0031365 | Macular purpura | |
| HP:0032018 | Multiple mononeuropathy | |
| HP:0003401 | Paresthesia | |
| HP:0001976 | Reduced antithrombin III activity | |
| HP:0040248 | Reduced plasminogen activator inhibitor 1 activity | |
| HP:0005543 | Reduced protein C activity | |
| HP:0004855 | Reduced protein S activity | |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate | |
| HP:0005293 | Venous insufficiency | |
| Very rare (<4-1%) | ||
| HP:0012393 | Allergy | |
| HP:0100647 | Graves disease | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0002140 | Ischemic stroke | |
| HP:0001876 | Pancytopenia | |
| HP:0001901 | Polycythemia | |
| HP:0002725 | Systemic lupus erythematosus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33219608[PMID]_32644463[PMID]_27297279[PMID]_36262273[PMID]_31009111[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542643
- This record as JSON: /data/d/542643.json