Erythroderma desquamativum
Synonyms: Leiner disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythroderma desquamativum | Leiner disease |
| fr | Erythrodermie desquamative | Maladie de Leiner-Moussous |
| de | Erythroderma desquamativa | Erythrodermia exfoliativa Leiner · Leiner-Krankheit |
| es | Eritrodermia descamativa de Leiner-Moussous | |
| it | Eritrodermia desquamativa | Malattia di Leiner |
| nl | Erytroderma desquamativa | Ziekte van Leiner |
| pt | Eritrodermia descamativa | Doença de Leiner |
| pl | Erytrodermia złuszczająca | Choroba Leinera |
| cs | Deskvamativní erytrodermie | Leinerova choroba |
| uk | Еритродермія десквамативна (Erythroderma desquamativum) | Хвороба Лейнера |
| zh | 脱屑性红皮病 | 脱屑性红皮病 |
| tr | Eritroderma desquamativum | Leiner hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609536 | NTBT | validated | |
| ICD-10 | L21.1 | NTBT | index | validated |
| ICD-11 | EH40.2 | NTBT | index | validated |
| MONDO | 0017787 | E | validated | |
| UMLS | C5551904 | E | validated | |
| GARD | 6878 | 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:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
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 |
|---|---|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 6 / 100 000 | United States | Value and class | Validated | ORPHANET |
| 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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0001051 | Seborrheic dermatitis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314
- This record as JSON: /data/d/314.json