autosomal dominant epidermolytic ichthyosis
MONDO:0020702Mondo
Findings
No curated finding names autosomal dominant epidermolytic ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Congenital bullous ichthyosiform erythrodermaHPOHP:0007475
- Very frequent (80% to 99% of cases)
- ErythrodermaHPOHP:0001019
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Poor appetiteHPOHP:0004396
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Frequent (30% to 79% of cases)
- Conjunctival hamartomaHPOHP:0100780
- Occasional (5% to 29% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Occasional (5% to 29% of cases)
- Skin ulcerHPOHP:0200042
- Occasional (5% to 29% of cases)