Lupus erythematosus tumidus
Synonyms: Intermittent cutaneous lupus
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lupus erythematosus tumidus | Intermittent cutaneous lupus |
| fr | Lupus tumidus | Lupus cutané intermittent |
| de | Lupus erythematodes tumidus | Intermittierender kutaner Lupus |
| es | Lupus eritematoso túmido | Lupus cutáneo intermitente · Lupus eritematoso tumidus |
| it | Lupus eritematoso tumido | |
| nl | Lupus erythematosus tumidus | Intermitterende cutane lupus |
| pt | Lúpus eritematoso túmido | |
| pl | Odmiana obrzękowa skórnej postaci tocznia rumieniowatego | = en |
| cs | Lupus erythematodes tumidus | = en |
| uk | Червоний вівчак пухлинний | Інтермітуючий шкірний вовчак |
| zh | 肿胀性红斑狼疮 | 间歇性皮肤狼疮 |
| tr | Lupus eritematozus tumidus | Aralıklı kutanöz lupus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L93.2 | NTBT | attributed | validated |
| ICD-11 | EB51.Y | NTBT | index | validated |
| MONDO | 0019560 | E | validated | |
| UMLS | C0406636 | E | validated | |
| GARD | 13003 | 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 (1):
- ORPHA:163531Chronic cutaneous lupus erythematosus
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 |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 21798482[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_21798482[PMID] |
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
12 annotations · validated 2021-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0031191 | Deep dermal perivascular inflammatory infiltrate | |
| HP:0025474 | Erythematous plaque | |
| Occasional (29-5%) | ||
| HP:0025528 | Annular cutaneous lesion | |
| HP:0032235 | Anti-La/SS-B antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0030351 | Urticarial plaque | |
| Very rare (<4-1%) | ||
| HP:0020151 | Anti-dsDNA antibody positivity | |
| Excluded (0%) | ||
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0040189 | Scaling skin | |
| HP:0100699 | Scarring | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33483145[PMID]_31632119[PMID]_25413356[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90283
- This record as JSON: /data/d/90283.json