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autosomal recessive congenital ichthyosis 1 (ARCI1) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Dry, scaly skin (ichthyosis); and very common findings: Ectropion, Palmoplantar hyperkeratosis, and Congenital nonbullous ichthyosiform erythroderma. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	8	Desquamation of skin soon after birth, Alopecia, Nail dysplasia
Pregnancy and birth	2	Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyosiform erythroderma
Head and neck	1	Everted lower lip vermilion
Muscles	1	Flexion contracture

Age of onset: at birth.

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 1.

40 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 1. Research spans Case Report / Case Series (48%), Basic Science / Preclinical (15%), and Gene Therapy / Novel Therapeutics (15%).

Research Type	Count	% of Total
Patient case studies	19	48%
Laboratory research	6	15%
New treatment approaches	6	15%
Disease patterns and progression	5	13%
Research summaries	3	8%
Testing and diagnosis research	1	3%

Recent Publications

Elgie T (2026). [PMID: 42001132](https://pubmed.ncbi.nlm.nih.gov/42001132/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesthesia progress*. [Basic Science / Preclinical]
Apaydin DC (2026). [PMID: 41605220](https://pubmed.ncbi.nlm.nih.gov/41605220/). *Cell stem cell*. [Gene Therapy / Novel Therapeutics]
Palanki R (2026). [PMID: 41650933](https://pubmed.ncbi.nlm.nih.gov/41650933/). *Cell stem cell*. [Case Report / Case Series]
Swaroop S (2026). [PMID: 41769439](https://pubmed.ncbi.nlm.nih.gov/41769439/). *Cureus*. [Case Report / Case Series]
Tajiri M (2026). [PMID: 41220238](https://pubmed.ncbi.nlm.nih.gov/41220238/). *J Dermatol*. [Case Report / Case Series]
Kumar A (2026). [PMID: 41949191](https://pubmed.ncbi.nlm.nih.gov/41949191/). *Indian J Dermatol Venereol Leprol*. [Epidemiology / Natural History]
Jiang X (2026). [PMID: 41530952](https://pubmed.ncbi.nlm.nih.gov/41530952/). *Br J Dermatol*. [Case Report / Case Series]
Hayashi M (2026). [PMID: 42145896](https://pubmed.ncbi.nlm.nih.gov/42145896/). *Case Rep Dermatol*. [Case Report / Case Series]
Sattar MA (2026). [PMID: 42196615](https://pubmed.ncbi.nlm.nih.gov/42196615/). *Int J Mol Sci*. [Case Report / Case Series]

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autosomal recessive congenital ichthyosis 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

autosomal recessive congenital ichthyosis 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team