epidermodysplasia verruciformis
Findings
No curated finding names epidermodysplasia verruciformis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
Definition from the Mondo Disease Ontology (MONDO:0009176), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the immune systemHPOHP:0002715
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- PustuleHPOHP:0200039
- Very frequent (80% to 99% of cases)
- Recurrent skin infectionsHPOHP:0001581
- Very frequent (80% to 99% of cases)
- Seborrheic dermatitisHPOHP:0001051
- Very frequent (80% to 99% of cases)
- Skin plaqueHPOHP:0200035
- Very frequent (80% to 99% of cases)
- VerrucaeHPOHP:0200043
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Frequent (30% to 79% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Frequent (30% to 79% of cases)
- Squamous cell carcinomaHPOHP:0002860
- Occasional (5% to 29% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Occasional (5% to 29% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMC6HGNC:18021
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- CORO1AHGNC:2252
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- MST1HGNC:7380
- Moderate · Genomics England PanelApp · Unknown · 2020
- RHOHHGNC:686
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- CIB1HGNC:16920
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
3 names
Resolves to: epidermodysplasia verruciformis
- Also called
- Lewandowsky-Lutz dysplasiaLewandowsky-Lutz syndromeLutz-Lewandowsky epidermodysplasia verruciformis