Epidermolytic ichthyosis

MONDO:0007239

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

Also known as: BCIE, EHK, EI, bullous congenital ichthyosiform erythroderma, bullous congenital ichthyosiform erythroderma of Brock, bullous ichthyosis, epidermolytic hyperkeratosis, epidermolytic ichthyosis

4 clinical trials for this condition and its sub-types, 1 tagged with Epidermolytic ichthyosis itself.

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Where it sits in the disease tree

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Part of

↑ Keratinization disease (31) ↑ Keratinopathic ichthyosis (7)

Sub-types of Epidermolytic ichthyosis

Autosomal dominant epidermolytic ichthyosis 0 trials
2 sub-types
- Annular epidermolytic ichthyosis 0 trials Sub-types →
- Epidermolytic hyperkeratosis 2A, autosomal dominant 0 trials
Autosomal recessive epidermolytic ichthyosis 0 trials
1 sub-type
- Epidermolytic hyperkeratosis 2B, autosomal recessive 0 trials
Epidermolytic hyperkeratosis 1 0 trials
Epidermolytic hyperkeratosis 2 0 trials
3 sub-types
- Epidermolytic hyperkeratosis 2A, autosomal dominant 0 trials
- Epidermolytic hyperkeratosis 2B, autosomal recessive 0 trials
- Ichthyosis, annular epidermolytic 1 0 trials

Most studied deeper sub-types

Ichthyosis, annular epidermolytic, 2 (0)

Including sub-types (4) Tagged with Epidermolytic ichthyosis (1)

Not yet recruiting 1 Not yet finished but already full! 1 Completed 1 Terminated 1

Could a cancer pill ease rare, painful skin diseases?

Disease control Not yet recruiting

This early-phase trial tests whether low doses of erlotinib, a drug originally used for cancer, can improve symptoms of rare genetic skin conditions called keratinopathies. About 44 adults with confirmed diagnoses will take increasing doses over 24 weeks. The goal is to see if it…

Phase 1/2 • Sponsor: Northwestern University • Aim: Disease control

Last updated Aug 05, 2026 00:00 UTC

Epidermolytic ichthyosis

Where it sits in the disease tree

Most studied deeper sub-types

Could a cancer pill ease rare, painful skin diseases?