Epidermal nevus syndrome

MONDO:0018115

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.

Also known as: Epidermal hamartoma syndrome

1 clinical trial for this condition and its sub-types, 1 tagged with Epidermal nevus syndrome itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Syndromic disease (7158)

Including sub-types (1) Tagged with Epidermal nevus syndrome (1)

Completed 1

Can a drug for one bone disease help another? a Rare-Disorder trial puts it to the test

Disease control Completed

This early-phase trial is testing whether burosumab, a drug already approved for X-linked hypophosphatemia (XLH), can safely raise phosphate levels in a single patient with cutaneous skeletal hypophosphatemia syndrome (CSHS). Both conditions involve abnormally high FGF23 activity…

Early phase 1 • Sponsor: Laura Tosi • Aim: Disease control

Last updated Aug 01, 2026 00:00 UTC

Epidermal nevus syndrome

Where it sits in the disease tree

Can a drug for one bone disease help another? a Rare-Disorder trial puts it to the test