epidermolysis bullosa simplex with muscular dystrophy

MeSH: C535955ORPHA: 2572 Treatments Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

autosomal recessive disease characterized early childhood onset of progressive muscular dystrophy and blistering skin changes and that has material basis in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24

Available Treatments (2)

Drug	Form	Status	Countries	Lead Time
idebenone Orphan	oral tablet, 150 mg	EMA Approved	9	21d
diacerein	oral capsule, 50mg	EMA Approved	6	14d

Clinical Presentation

Signs and symptoms associated with epidermolysis bullosa simplex with muscular dystrophy, sourced from HPO and Orphanet clinical annotations.

OphthalmoparesisOphthalmoplegiaAlopeciaHypoplastic fingernailHyperconvex fingernailsMutismAphasiaMyopathyEcholaliaMuscle flaccidityOculomotor nerve palsySkin vesiclePtosisAbnormal dental enamel morphologyDermal atrophyAplasia/Hypoplasia of the skinPapuleFatigable weaknessFatigue

Classification & Codes

MeSH Code

C535955

Orphanet Code

ORPHA:257

epidermolysis bullosa simplex with muscular dystrophy

MeSH	`C535955`
Orphanet	`ORPHA:257`
Treatments	2 drug(s)
Symptoms on record	19 signs
Status	published

Treatment Summary

idebenone· Orphan diacerein

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO