congenital non-bullous ichthyosiform erythroderma
Findings
No curated finding names congenital non-bullous ichthyosiform erythroderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Definition from the Mondo Disease Ontology (MONDO:0019306), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EctropionHPOHP:0000656
- Very frequent (80% to 99% of cases)
- ErythrodermaHPOHP:0001019
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- PruritusHPOHP:0000989
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Corneal erosionHPOHP:0200020
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- KeratitisHPOHP:0000491
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
Show the remaining 1
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Genes
7 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.
- ALOX12BHGNC:430
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- ALOXE3HGNC:13743
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- ABCA12HGNC:14637
- Supportive · Orphanet · Autosomal recessive · 2021
- CERS3HGNC:23752
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:21246HGNC:21246
- · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: congenital non-bullous ichthyosiform erythroderma
- Also called
- alligator skinCIEcongenital ichthyosiform erythrodermacongenital ichthyosiform erythroderma (disease)congenital non bullous ichthyosiform erythrodermaerythrodermic ichthyosisichthyosiform erythrodermanon-bullous congenital ichthyosiform erythrodermanonbullous congenital ichthyosiform erythroderma