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epidermal nevus syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epidermal nevus syndrome

MONDO:0018115

Also known as:Epidermal hamartoma syndrome

Overview

A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities.

Diagnosis

Biomarker and diagnostic research for epidermal nevus syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 epidermal nevus syndrome.

18 publications have been identified in PubMed for epidermal nevus syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (28%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Patient case studies	9	50%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:35125

GARD

Genetic and Rare Diseases Info Center

GARD:18813

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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epidermal nevus syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications