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autosomal recessive epidermolytic ichthyosis (AREI) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive epidermolytic ichthyosis

MONDO:0044742

Also known as:AREI

Overview

ResearchLimited published research (5 articles)

Diagnosis

Biomarker and diagnostic research for autosomal recessive epidermolytic ichthyosis has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal recessive epidermolytic ichthyosis.

5 publications have been identified in PubMed for autosomal recessive epidermolytic ichthyosis. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel, Switzerland)*. [Diagnostic / Biomarker]
Smits E (2025). [PMID: 40741111](https://pubmed.ncbi.nlm.nih.gov/40741111/). *Clinical case reports*. [Case Report / Case Series]
Frommherz L (2025). [PMID: 38741524](https://pubmed.ncbi.nlm.nih.gov/38741524/). *Journal of the European Academy of Dermatology and Venereology : JEADV*. [Epidemiology / Natural History]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta dermato-venereologica*. [Review / Meta-Analysis]
van der Velden JJAJ (2024). [PMID: 39072839](https://pubmed.ncbi.nlm.nih.gov/39072839/). *The Journal of dermatology*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:512103

GARD

Genetic and Rare Diseases Info Center

GARD:22074

Questions for Your Care Team

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autosomal recessive epidermolytic ichthyosis

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team