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.
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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?
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Catherine Laprise
Elite
Highly rated in
10
conditions

Université Du Québec À Chicoutimi

Saguenay, QC, CA 

Catherine Laprise practices in Saguenay, Canada. Laprise is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Dominant Dystrophic Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, Asthma, and Epidermolysis Bullosa.

CH
Cristina Has
Elite
Highly rated in
38
conditions

University Medical Center Freiburg

Freiburg, DE 

Cristina Has practices in Freiburg, Germany. Has is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. She is also highly rated in 38 other conditions, according to our data. Her top areas of expertise are Epidermolysis Bullosa, Bullae, PARC Syndrome, and Kindler Syndrome.

 
 
 
 
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CC
Christine Chiaverini
Elite
Highly rated in
23
conditions

CHU De L'Archet

Nice, FR 

Christine Chiaverini practices in Nice, France. Chiaverini is rated as an Elite expert by MediFind in the treatment of Dominant Dystrophic Epidermolysis Bullosa. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, Dominant Dystrophic Epidermolysis Bullosa, and Cockayne Syndrome.

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What are the latest Dominant Dystrophic Epidermolysis Bullosa Clinical Trials?
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Enrollment Status: Recruiting
Publish Date: November 04, 2022

Summary: Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

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A Phase I/II, Closed Label, Randomized, Pilot Study for the Safety and Efficacy of TolaSure Gel, 5% w/w Targeting Aggregated Mutant Keratin in Severe Epidermolysis Bullosa Simplex (TAMES)
Who is this study for: Patients with severe epidermolysis bullosa simplex
Enrollment Status: Recruiting
Publish Date: July 20, 2022
Intervention Type: Drug
Study Drug: TolaSure
Study Phase: Phase 1

Summary: TolaSure is a topical gel for the promotion of accelerated wound healing. This Phase I study will assess the safety, tolerability, and clinical effects of TolaSure when applied to wounded skin areas of patients diagnosed with severe epidermolysis bullosa simplex (i.e., EBS-Dowling Meara). A total of 10, severe EBS patients, males and females ages 18 years and older, will be enrolled. Patients will...

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Who are the sources who wrote this article ?

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

What are the Latest Advances for Dominant Dystrophic Epidermolysis Bullosa?
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
Journal: Genes
Published: October 23, 2021
Genetic and acquired blistering disorders of pediatric age group: An experience from Eastern India.
Journal: Indian journal of pathology & microbiology
Published: August 03, 2021
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Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care.
Journal: Orphanet journal of rare diseases
Published: June 12, 2021
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