annular epidermolytic ichthyosis
Findings
No curated finding names annular epidermolytic ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
Definition from the Mondo Disease Ontology (MONDO:0011870), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KRT1HGNC:6412
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT10HGNC:6413
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: annular epidermolytic ichthyosis
- Also called
- AEIichthyosis, annular epidermolytic