Dominant Dystrophic Epidermolysis Bullosa Overview

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Learn About Dominant Dystrophic Epidermolysis Bullosa

What is the definition of Dominant Dystrophic Epidermolysis Bullosa?
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by genetic changes in the COL7A1 gene and is inherited in an autosomal dominant manner.
What are the alternative names for Dominant Dystrophic Epidermolysis Bullosa?
  • Dominant dystrophic epidermolysis bullosa
  • Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
  • DDEB, Pasini and Cockayne-Touraine types
  • DDEB, generalized
  • DDEB-gen
  • Dominant dystrophic epidermolysis bullosa, generalized
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)
  • Epidermolysis bullosa dystrophica, Pasini type (formerly)
  • Epidermolysis bullosa dystrophica, autosomal dominant
  • Generalized dominant dystrophic epidermolysis bullosa
Who are the top Dominant Dystrophic Epidermolysis Bullosa Local Doctors?
Elite in Dominant Dystrophic Epidermolysis Bullosa
Catherine Laprise
Elite in Dominant Dystrophic Epidermolysis Bullosa
Catherine Laprise
Saguenay, QC, CA 

Catherine Laprise practices in Saguenay, Canada. Ms. Laprise is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. Her top areas of expertise are Dowling-Meara Epidermolysis Bullosa Simplex, Dominant Dystrophic Epidermolysis Bullosa, Asthma, and Epidermolysis Bullosa.

Elite in Dominant Dystrophic Epidermolysis Bullosa
Cristina Has
Elite in Dominant Dystrophic Epidermolysis Bullosa
Cristina Has
Freiburg, BW, DE 

Cristina Has practices in Freiburg, Germany. Ms. Has is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. Her top areas of expertise are Dominant Dystrophic Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, Epidermolysis Bullosa, and Junctional Epidermolysis Bullosa.

 
 
 
 
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Elite in Dominant Dystrophic Epidermolysis Bullosa
Dedee F. Murrell
Elite in Dominant Dystrophic Epidermolysis Bullosa
Dedee F. Murrell
High Street, 
Kensington, NSW, AU 

Dedee Murrell practices in Kensington, Australia. Murrell is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. Their top areas of expertise are Epidermolysis Bullosa, Pemphigus, Pemphigus Vulgaris, and Pemphigus Foliaceus.

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What are the latest Dominant Dystrophic Epidermolysis Bullosa Clinical Trials?
A Phase II, Closed Label, Placebo Controlled, Randomized, Double-Blinded Clinical Trial to Evaluate the Efficacy and Safety of TolaSure Gel, 5% w/w Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex (TAMES)
A Phase II, Closed Label, Placebo Controlled, Randomized, Double-Blinded Clinical Trial to Evaluate the Efficacy and Safety of TolaSure Gel, 5% w/w Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex (TAMES)
Enrollment Status: Recruiting
Publish Date: September 11, 2025
Intervention Type: Drug
Study Phase: Phase 2

Summary: This Phase II clinical study will assess the efficacy, safety and tolerability of topical TolaSure Gel in adults and pediatric patients (4 years of age and older) diagnosed with generalized intermediate to severe epidermolysis bullosa simplex (EBS). Each patient (40 to complete) will be enrolled in the study and will be randomized to receive either TolaSure Gel or a topical Placebo for daily appli...

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An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study With Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS) [EBShield Study]
An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study With Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS) [EBShield Study]
Enrollment Status: Recruiting
Publish Date: September 02, 2025
Intervention Type: Drug
Study Phase: Phase 2/Phase 3

Summary: The proposed Phase 2/3 trial with double-blind and open-label extension phases is an international, multicenter study designed to assess the efficacy and safety of diacerein 1% ointment in patients with generalized EBS.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center