Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

syndromic recessive X-linked ichthyosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic recessive X-linked ichthyosis

MONDO:0017264

Also known as:recessive X-linked ichthyosis with extracutaneous manifestationssyndrome associated with recessive X-linked ichthyosissyndromic RXLI

Overview

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for syndromic recessive X-linked ichthyosis has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 syndromic recessive X-linked ichthyosis.

8 publications have been identified in PubMed for syndromic recessive X-linked ichthyosis. Research spans Diagnostic / Biomarker (29%), Review / Meta-Analysis (29%), and Case Report / Case Series (29%).

Recent Publications

Basta M (2026). [PMID: 32491315](https://pubmed.ncbi.nlm.nih.gov/32491315/). *Unknown Journal*. [Basic Science / Preclinical]
Kumar A (2026). [PMID: 41949191](https://pubmed.ncbi.nlm.nih.gov/41949191/). *Indian J Dermatol Venereol Leprol*. [Case Report / Case Series]
Alfahaad HA (2025). [PMID: 41402091](https://pubmed.ncbi.nlm.nih.gov/41402091/). *Saudi Med J*. [Diagnostic / Biomarker]
Zhou B (2025). [PMID: 39086014](https://pubmed.ncbi.nlm.nih.gov/39086014/). *Int J Dermatol*. [Review / Meta-Analysis]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta Derm Venereol*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 11:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:281090

GARD

Genetic and Rare Diseases Info Center

GARD:17302

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

syndromic recessive X-linked ichthyosis

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team