ORPHA:2897
Pityriasis rubra pilaris
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pityriasis rubra pilaris | |
| fr | Pityriasis rubra pilaire | |
| de | Pityriasis rubra pilaris | Devergie-Krankheit |
| es | Pitiriasis rubra pilaris | |
| it | Pitiriasi rubra pilare | |
| nl | Pityriasis rubra pilaris | |
| pt | Pytiriasis rubra pilosa | |
| pl | Łupież czerwony mieszkowy | |
| cs | Pityriasis rubra pilaris | |
| uk | Червоний волосяний лишай | |
| zh | 毛发红糠疹 | |
| tr | Pitiriazis rubra pilaris |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173200 | E | validated | |
| ICD-10 | L44.0 | E | specific | validated |
| ICD-11 | EA94 | E | specific | validated |
| MONDO | 8251 | E | validated | |
| MeSH | D010916 | E | validated | |
| UMLS | C0032027 | E | validated | |
| GARD | 7401 | E | validated | |
| MedDRA | 10035116 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79355Erythrokeratoderma
rare skin diseases - ORPHA:183438Genetic erythrokeratoderma
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CARD14 | Disease-causing germline mutation(s) in | Assessed | HGNC:16446 | ENSG00000141527 | 607211 | 17q25.3 | caspase recruitment domain family member 14 | 22703878[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 48 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 1 000 000 | — | 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.
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HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001019 | Erythroderma | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0200034 | Papule | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000989 | Pruritus | |
| HP:0008392 | Subungual hyperkeratosis | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0000163 | Abnormal oral cavity morphology | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0008064 | Ichthyosis | |
| HP:0100725 | Lichenification | |
| HP:0002664 | Neoplasm | |
| HP:0200039 | Pustule | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2897
- This record as JSON: /data/d/2897.json