Exfoliative ichthyosis
Synonyms: Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Exfoliative ichthyosis | Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa |
| fr | Ichtyose exfoliative | Ichtyose exfoliative autosomique récessive |
| de | Ichthyose, exfoliative | Ichthyose, exfoliative, autosomal-rezessive |
| es | Ictiosis exfoliante | Ictiosis exfoliante autosómica recesiva · Ictiosis exfoliativa |
| it | Ittiosi esfoliativa | Ittiosi esfoliativa autosomica recessiva |
| nl | Exfoliatieve ichthyosis | Autosomaal recessieve exfoliatieve ichthyosis · Ichthyosis exfoliativa |
| pt | Ictiose exfoliativa | Ictiose exfoliativa, autossómica recessiva |
| pl | Rybia łuska złuszczająca | Autosomalna recesywna rybia łuska złuszczajaca |
| cs | Exfoliativní ichtyóza | Autozomálné recesivní exfoliativní ichtyóza · Ichtyosis exfoliativa |
| uk | Ексфоліативний іхтіоз | Аутосомно-рецесивний ексфоліативний іхтіоз · Відлущувальний іхтіоз |
| zh | 剥脱性鱼鳞病 | 常染色体隐性遗传剥脱性鱼鳞病 |
| tr | Eksfolyatif iktiyoz | İktiyoz eksfoliatif · Otozomal çekinik eksfolyatif iktiyoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607936 | BTNT | validated | |
| OMIM | 617115 | BTNT | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | EC20.02 | NTBT | attributed | validated |
| MONDO | 0017339 | E | validated | |
| MeSH | C563978 | E | validated | |
| UMLS | C1838440 | 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:281097Autosomal recessive congenital ichthyosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:250811Serpinopathy with loss of serpin function
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSTA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2481 | ENSG00000121552 | 184600 | 3q21.1 | cystatin A | 21944047[PMID] |
| SERPINB8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8952 | ENSG00000166401 | 601697 | 18q22.1 | serpin family B member 8 | 27476651[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289586
- This record as JSON: /data/d/289586.json