OrphanDrug
OrphanDrug
Pharma Knowledge Base

generalized epidermolysis bullosa simplex

MeSH: C535961ORPHA: 79399

Contents

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

Overview

epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

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

HyperkeratosisLamina lucida cleavageSkin fragility with non-scarring blisteringAbnormal blistering of the skinSpotty hyperpigmentationSpotty hypopigmentationPlantar hyperkeratosisPalmar hyperkeratosisAbnormality of the dentitionHypermelanotic maculeMiliaNail dystrophyMixed hypo- and hyperpigmentation of the skinHypomelanotic maculeOral mucosal blistersPruritusPapule

Classification & Codes

MeSH Code

C535961

Orphanet Code

ORPHA:79399
generalized epidermolysis bullosa simplex
MeSHC535961
OrphanetORPHA:79399
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO