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

hereditary benign intraepithelial dyskeratosis (HBID) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary benign intraepithelial dyskeratosis

MONDO:0007486

Also known as:HBIDWitkop-Von Sallmann diseasehereditary benign corneal intraepithelial dyskeratosis

Overview

A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Features include sometimes findings: Photophobia. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Visual impairment
Blood and immune system	1	Oral leukoplakia

Explore clinical features

Prognosis

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 hereditary benign intraepithelial dyskeratosis.

3 publications have been identified in PubMed for hereditary benign intraepithelial dyskeratosis. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Novelli A (2024). [PMID: 38865544](https://pubmed.ncbi.nlm.nih.gov/38865544/). *Rev Assoc Med Bras (1992)*. [Review / Meta-Analysis]
Spodzieja K (2024). [PMID: 39563015](https://pubmed.ncbi.nlm.nih.gov/39563015/). *Am J Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:127600

Orphanet

European rare disease database

Orphanet:352657

GARD

Genetic and Rare Diseases Info Center

GARD:17524

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

hereditary benign intraepithelial dyskeratosis

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team