Congenital lethal erythroderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lethal erythroderma | |
| fr | Erythrodermie congénitale létale | |
| de | Erythrodermie, kongenitale letale | |
| es | Eritrodermia congénita letal | |
| it | Eritroderma congenito letale | |
| nl | Congenitale letale erytrodermie | |
| pt | Eritrodermia letal congénita | |
| pl | Wrodzona letalna erytrodermia | |
| cs | Vrozená letální erytrodermie | |
| uk | Вроджена летальна еритродермія | |
| zh | 先天性致死性红皮病 | |
| tr | Doğumsal letal eritrodermi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227090 | E | validated | |
| ICD-10 | L21.1 | NTBT | attributed | validated |
| ICD-11 | EH40.2 | NTBT | attributed | validated |
| MONDO | 0009198 | E | validated | |
| MeSH | C535513 | E | validated | |
| UMLS | C1856898 | 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:79385Unclassified genetic skin disorder
rare genetic diseases; 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 | 17 cases | Worldwide | Case(s) | Validated | 1535034[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1535034[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007381 | Congenital exfoliative erythroderma | |
| HP:0001522 | Death in infancy | |
| HP:0000958 | Dry skin | |
| HP:0001508 | Failure to thrive | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0008064 | Ichthyosis | |
| HP:0002024 | Malabsorption | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001025 | Urticaria | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1954
- This record as JSON: /data/d/1954.json