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autosomal recessive congenital ichthyosis (ARCI) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis

MONDO:0017265

Also known as:ARCIautosomal recessive inherited ichthyosisichthyosis, congenital, autosomal recessive

Overview

Autosomal recessive form of inherited ichthyosis.

OnsetCONGENITAL

TreatmentsNo approved treatments · 1 in pipeline

Diagnosis

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

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal recessive congenital ichthyosis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for autosomal recessive congenital ichthyosis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for autosomal recessive congenital ichthyosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

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 autosomal recessive congenital ichthyosis.

54 publications have been identified in PubMed for autosomal recessive congenital ichthyosis. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (12%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	27	53%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:281097

GARD

Genetic and Rare Diseases Info Center

GARD:21106

Questions for Your Care Team

→What is the current development status of A replication-incompetent, non-integrating Herpes simplex type 1 (HSV-1) vector expressing the human transglutaminase-1 (TGM-1) enzyme, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

autosomal recessive congenital ichthyosis

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

autosomal recessive congenital ichthyosis

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.