Dominant Dystrophic Epidermolysis Bullosa

Symptoms, Doctors, Treatments, Research & More

Condition 101

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 mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.

What are the alternative names for Dominant Dystrophic Epidermolysis Bullosa?

  • Dominant dystrophic epidermolysis bullosa, generalized
  • DDEB, generalized
  • DDEB-gen
  • Epidermolysis bullosa dystrophica, autosomal dominant
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)
  • Epidermolysis bullosa dystrophica, Pasini type (formerly)
  • Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
  • DDEB, Pasini and Cockayne-Touraine types
  • Generalized dominant dystrophic epidermolysis bullosa

What are the causes for Dominant Dystrophic Epidermolysis Bullosa?

Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body.

Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis.

COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal.

A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Click on the link for more. 

What are the symptoms for Dominant Dystrophic Epidermolysis Bullosa?

Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. Blistering may be relatively benign, but still heals with scarring and milia. Dystrophic nails, especially toenails, are common and loss of nails may occur. In the mildest forms, dystrophic nails may be the only characteristic noted. Blistering in DDEB often improves somewhat with age.

Is Dominant Dystrophic Epidermolysis Bullosa an inherited disorder?

Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.

Top Global Doctors

Cristina Has
Freiburg, BW, DE
John A. Mcgrath
London, ENG, GB
Dedee F. Murrell
Sydney, NSW, AU
Gerhard Wiche
Vienna, 9, AT
Verena Wally
Salzburg, 5, AT

Latest Research

Latest Advance
  • Condition: Epidermolysis bullosa simplex
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Topically applied diacerein
  • Number of Patients: 0
  • Published —
This study evaluated the effects of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex.
Latest Advance
  • Condition: Epidermolysis bullosa simplex (EBS)
  • Journal: Journal of the American Academy of Dermatology
  • Treatment Used: 1% diacerein cream
  • Number of Patients: 17
  • Published —
The study researched the effects of 1% diacerein cream in patients with epidermolysis bullosa simplex (EBS).

Clinical Trials

Clinical Trial
  • Status: Recruiting
  • Study Type: Other
  • Participants: 100
  • Start Date: March 2, 2020
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Epidermolysis Bullosa