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white sponge nevus 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

white sponge nevus 1

MONDO:0008676

Also known as:KRT4 hereditary mucosal leukokeratosisWhite sponge Nevus type 1hereditary mucosal leukokeratosis caused by mutation in KRT4

Overview

Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.

GeneticsAutosomal dominant · KRT4 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Features include always present findings: Oral leukoplakia. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Abnormal conjunctiva morphology
Blood and immune system	1	Oral leukoplakia

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KRT4 encodes keratin 4 (520 aa). Highest expression in Esophagus Mucosa (21,437 TPM) and Vagina (1,375 TPM).

White sponge nevus 1 is associated with mutations in the KRT4 gene on chromosome 12.

KRT4 is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for KRT4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 white sponge nevus 1.

2 publications have been identified in PubMed for white sponge nevus 1. Research spans Other (50%) and Case Report / Case Series (50%).

Recent Publications

Surabhi KV (2025). [PMID: 41296532](https://pubmed.ncbi.nlm.nih.gov/41296532/). *Indian J Dermatol Venereol Leprol*. [Other]
Hosseinpour Sarmadi M (2025). [PMID: 40893399](https://pubmed.ncbi.nlm.nih.gov/40893399/). *Clin Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:193900

Questions for Your Care Team

→Should I pursue genetic testing for KRT4, and what would the results mean for my family?
→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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white sponge nevus 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team