Elastosis perforans serpiginosa
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Elastosis perforans serpiginosa | |
| fr | Elastosis perforans serpiginosa | |
| de | Elastosis perforans serpiginosa | |
| es | Elastosis perforans serpiginosa | |
| it | Elastosi serpiginosa perforante | |
| nl | Elastosis perforans serpiginosa | |
| pt | Elastose perfurante serpiginosa | |
| pl | Elastosis perforans serpiginosa | |
| cs | Elastosis perforans serpiginosa | |
| uk | Перфоративний серпігінозний еластоз | |
| zh | 匐行穿孔性弹性组织变性 | |
| tr | Elastosis perforans serpiginosa |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130100 | E | validated | |
| ICD-10 | L87.2 | NTBT | attributed | validated |
| ICD-11 | EE70.Y | NTBT | index | validated |
| MONDO | 0007529 | E | validated | |
| MeSH | C536202 | E | validated | |
| UMLS | C0221271 | E | validated | |
| GARD | 10103 | E | validated | |
| MedDRA | 10014338 | 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):
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_27881947[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
11 annotations · validated 2021-01-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000464 | Abnormality of the neck | |
| HP:0045059 | Hyperkeratotic papule | |
| Frequent (79-30%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0025528 | Annular cutaneous lesion | |
| HP:0030350 | Erythematous papule | |
| HP:0025527 | Serpiginous cutaneous lesion | |
| HP:0200035 | Skin plaque | |
| HP:0025512 | Skin-colored papule | |
| Occasional (29-5%) | ||
| HP:0007473 | Crusting erythematous dermatitis | |
| HP:0000973 | Cutis laxa | |
| HP:0025092 | Epidermal acanthosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24648695[PMID]_27881947[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79148
- This record as JSON: /data/d/79148.json