RecruitingPhase 1 / Phase 2NCT07070232
Dermatological
Epidermal Nevus Syndrome
Also known as ENS, Schimmelpenning syndrome, linear sebaceous nevus, somatic mosaic
Epidermal nevus syndrome encompasses a heterogeneous group of neurocutaneous disorders characterised by the presence of epidermal nevi in association with systemic abnormalities affecting the brain, eyes, and skeleton, all arising from soma
ORPHA:35125 ↗Gene FGFR3Gene PIK3CAGene HRAS (somatic)Prevalence Less than 1 in 100,000Onset CongenitalSomatic mosaic (post-zygotic mutation)
5
studies recruiting now
as of 7 Sept 2026
13
studies registered in total
as of 7 Sept 2026
11
countries with a recruiting site
as of 7 Sept 2026
16 Dec 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 2NCT06789913
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
RecruitingPhase 3NCT07285005
A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
RecruitingNCT02399527
Lymphatic Anomalies Registry for the Assessment of Outcome Data
RecruitingNCT03001180
Identification of Biomarkers for Patients with Vascular Anomalies
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Epidermal Nevus Syndrome
Epidermal nevus syndrome encompasses a heterogeneous group of neurocutaneous disorders characterised by the presence of epidermal nevi in association with systemic abnormalities affecting the brain, eyes, and skeleton, all arising from somatic (post-zygotic) mutations in genes regulating cell growth, including FGFR3, PIK3CA, and HRAS. Because the mutations arise post-fertilisation, they are present only in a mosaic distribution following Blaschko's lines, and are not detectable in blood in a significant proportion of cases — requiring skin biopsy from affected tissue for molecular diagnosis. The syndrome spectrum includes Schimmelpenning syndrome (sebaceous nevus), pigmented epidermal nevus syndrome, and keratinocytic epidermal nevus syndrome.
Common clinical features
Linear, verrucous, or sebaceous epidermal nevi distributed along Blaschko's lines, present from birthNeurological abnormalities: epilepsy (often refractory), intellectual disability, and hemimegalencephalyOcular abnormalities: coloboma, corneal opacification, and lipodermoid lesions of the conjunctivaSkeletal anomalies: hemihypertrophy, vitamin D-resistant rickets (hypophosphataemic rickets), and scoliosisRisk of malignant transformation of sebaceous nevi (basal cell carcinoma, sebaceous carcinoma) in adult lifeCardiovascular abnormalities in some subtypes including ventricular septal defectsRenal anomalies including renal cysts and Wilms tumour predisposition in PIK3CA-related subtypes
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 1 (early)Burosumab (Crysvita)
Before you apply
Things trial teams commonly ask about for Epidermal Nevus Syndrome. Not eligibility rules; those are set by each study.
- Blood-based genetic testing is frequently negative due to somatic mosaicism — trials targeting PIK3CA or FGFR3 pathway require skin biopsy from affected nevus tissue with next-generation sequencing at adequate variant allele frequency.
- PIK3CA-related overgrowth spectrum (PROS) trials may include ENS patients with PIK3CA mutations — confirm eligibility under PROS umbrella protocols which may have broader inclusion criteria.
- Multidisciplinary baseline assessment including neurology (MRI brain), ophthalmology, and skeletal survey is typically required; compile all recent specialist reports before approaching trial sites.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).