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congenital non-bullous ichthyosiform erythroderma (CIE) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital non-bullous ichthyosiform erythroderma

MONDO:0019306

Also known as:CIEalligator skincongenital ichthyosiform erythroderma

Overview

A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

OnsetCONGENITAL, INFANTILE

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: Ectropion, Decreased sweating (hypohidrosis), Pruritus, and Erythroderma and others; and common findings: Hearing loss (hearing impairment), Keratitis, Palmoplantar keratoderma, and Failure to thrive and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Decreased sweating (hypohidrosis), Palmoplantar keratoderma, Pruritus

Diagnosis

Biomarker and diagnostic research for congenital non-bullous ichthyosiform erythroderma has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very common features, 7 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

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 congenital non-bullous ichthyosiform erythroderma.

48 publications have been identified in PubMed for congenital non-bullous ichthyosiform erythroderma. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	23	48%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79394

GARD

Genetic and Rare Diseases Info Center

GARD:9736

Questions for Your Care Team

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Kisho

congenital non-bullous ichthyosiform erythroderma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital non-bullous ichthyosiform erythroderma

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications