Acrodermatitis continua of Hallopeau
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrodermatitis continua of Hallopeau | |
| fr | Acrodermatite continue de Hallopeau | |
| de | Acrodermatitis continua suppurativa Hallopeau | |
| es | Acrodermatitis continua supurativa de Hallopeau | |
| it | Acrodermatite continua di Hallopeau | |
| nl | Acrodermatitis continua van Hallopeau | |
| pt | Acrodermatite contínua de Hallopeau | |
| pl | Acrodermatitis continua suppurativa of Hallopeau (Krostowe zapalenie skóry palców) | |
| cs | Acrodermatitis suppurativa Hallopeau | Hallopeauova nemoc |
| uk | Стійкий акродерматит Аллопо | |
| zh | 拇趾连续性肢端皮炎 | |
| tr | Hallopeau'nun akrodermatit devamı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L40.2 | NTBT | index | validated |
| ICD-11 | EA90.41 | E | specific | validated |
| UMLS | C0392439 | 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:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP1S3 | Disease-causing germline mutation(s) in | Assessed | HGNC:18971 | ENSG00000152056 | 615781 | 2q36.1 | adaptor related protein complex 1 subunit sigma 3 | 24791904[PMID] |
| IL36RN | Disease-causing germline mutation(s) in | Assessed | HGNC:15561 | ENSG00000136695 | 605507 | 2q14.1 | interleukin 36 receptor antagonist | 23303454[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Worldwide | Value and class | Validated | 34532894[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163931
- This record as JSON: /data/d/163931.json