autosomal recessive epidermolytic ichthyosis (AREI) - Symptoms, Causes & Research | Kisho | Kisho

autosomal recessive epidermolytic ichthyosis

Rare Disease

MONDO:0044742

Also known as:

AREI

Genes

Clinical Trials

2 total

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Associated Genes

1 gene

KRT10

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

1 gene

KRT10

Gene data from HGNC • Click to view on NCBI Gene

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(4 data sources · Data coverage: Limited)

Overview

autosomal recessive epidermolytic ichthyosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

The condition is also known as AREI. There are currently no orphan drug designations under investigation for this disease. Information regarding inheritance patterns, symptoms, or associated genes is not available.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries, such as NORD or Orphanet, may provide additional resources and support. Engaging with online patient communities can also help in sharing experiences and finding specialists familiar with this condition.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

1 gene

KRT10

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:512103

GARD

Genetic and Rare Diseases Info Center

GARD:22074

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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autosomal recessive epidermolytic ichthyosis

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

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