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multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

MONDO:0017837

Overview

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.

ResearchLimited published research (2 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: Damage to the optic nerve (optic atrophy), Diplopia, Sensory neuropathy, and Ataxia and others; and common findings: Hemiplegia/hemiparesis.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Sensory neuropathy, Ataxia, Difficulty walking (gait disturbance)

Prognosis

Phenotype severity distribution: 11 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_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 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome.

2 publications have been identified in PubMed for multiple sclerosis-ichthyosis-factor VIII deficiency syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Panferov E (2025). [PMID: 40565081](https://pubmed.ncbi.nlm.nih.gov/40565081/). *Int J Mol Sci*. [Review / Meta-Analysis]
Zapata Arceo S (2025). [PMID: 40799883](https://pubmed.ncbi.nlm.nih.gov/40799883/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 5:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3151

GARD

Genetic and Rare Diseases Info Center

GARD:18787

Questions for Your Care Team

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multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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