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autosomal dominant epidermolytic ichthyosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant epidermolytic ichthyosis

MONDO:0020702

Overview

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Thickened, rough skin (hyperkeratosis), Erythroderma, Weight loss, and Poor appetite and others; and common findings: Cutaneous photosensitivity. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Thickened, rough skin (hyperkeratosis), Congenital bullous ichthyosiform erythroderma, Dry, scaly skin (ichthyosis)

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 very common features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 dominant epidermolytic ichthyosis.

9 publications have been identified in PubMed for autosomal dominant epidermolytic ichthyosis. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (11%), and Review / Meta-Analysis (11%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Frommherz L (2025). [PMID: 38741524](https://pubmed.ncbi.nlm.nih.gov/38741524/). *J Eur Acad Dermatol Venereol*. [Epidemiology / Natural History]
Zafar K (2025). [PMID: 40137998](https://pubmed.ncbi.nlm.nih.gov/40137998/). *Arch Dermatol Res*. [Case Report / Case Series]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta Derm Venereol*. [Review / Meta-Analysis]
Lee WQ (2025). [PMID: 41460040](https://pubmed.ncbi.nlm.nih.gov/41460040/). *Pediatr Dermatol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:312

GARD

Genetic and Rare Diseases Info Center

GARD:1039

Questions for Your Care Team

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autosomal dominant epidermolytic ichthyosis

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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