Keratinopathic ichthyosis
Synonyms: KPI
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in <i>KRT1</i> and <i>KRT10</i> cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a <i>KRT1</i> mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. <i>KRT2</i> mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratinopathic ichthyosis | KPI |
| fr | Ichtyose kératinopathique | = en |
| de | Ichthyose, keratinopathische | = en |
| es | Ictiosis queratinopática | = en |
| it | Ittiosi cheratinopatica | = en |
| nl | Keratinopathische ichthyosis | = en |
| pt | Ictiose queratinopática | = en |
| pl | Rybia łuska z keratynopatią | = en |
| cs | Keratinopatická ichtyóza | = en |
| uk | Кератинопатичний іхтіоз | = en |
| zh | 角化性鱼鳞病 | = en |
| tr | Keratinopatik iktiyoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | EC20.03 | E | specific | validated |
| MONDO | 0017266 | E | validated | |
| MONDO | 17266 | E | validated | |
| UMLS | C4511307 | 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:281082Inherited non-syndromic ichthyosis
rare genetic diseases; rare skin diseases
Children (7):
- ORPHA:281139Annular epidermolytic ichthyosis
- ORPHA:312Autosomal dominant epidermolytic ichthyosis
- ORPHA:512103Autosomal recessive epidermolytic ichthyosis
- ORPHA:281190Congenital reticular ichthyosiform erythroderma
- ORPHA:497737Epidermolytic nevus
- ORPHA:79503Ichthyosis hystrix of Curth-Macklin
- ORPHA:455Superficial epidermolytic ichthyosis
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | France | Value and class | Validated | 24393603[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/281103
- This record as JSON: /data/d/281103.json