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
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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

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)

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

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