Learn About Dystrophic Epidermolysis Bullosa

What is the definition of Dystrophic Epidermolysis Bullosa?

Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, scarring, and other serious medical problems.

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What are the causes of Dystrophic Epidermolysis Bullosa?

Mutations in the COL7A1 gene cause all forms of dystrophic epidermolysis bullosa. This gene provides instructions for making a protein that forms the pieces (subunits) of a larger protein called type VII collagen. Collagens are proteins that give 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.

How prevalent is Dystrophic Epidermolysis Bullosa?

Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people.

Is Dystrophic Epidermolysis Bullosa an inherited disorder?

Recessive dystrophic epidermolysis bullosa (RDEB-sev gen and RDEB-gen and -loc) is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Who are the top Dystrophic Epidermolysis Bullosa Local Doctors?
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King's College London

London, ENG, GB 

John Mcgrath is in London, United Kingdom. Mcgrath is rated as an Elite expert by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. He is also highly rated in 68 other conditions, according to our data. His top areas of expertise are Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, and Dominant Dystrophic Epidermolysis Bullosa.

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Highly rated in
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Dermatology

Keck Medicine of USC

Los Angeles - Dermatology

1450 San Pablo St 
Los Angeles, CA 90033

David Woodley is a Dermatologist in Los Angeles, California. Dr. Woodley has been practicing medicine for over 49 years and is rated as an Elite doctor by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, Junctional Epidermolysis Bullosa, and Bullous Pemphigoid. He is licensed to treat patients in California. Dr. Woodley is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
3
conditions

University Of Freiburg

Faculty Of Medicine 
Freiburg, BW, DE 

Alexander Nystrom is in Freiburg, Germany. Nystrom is rated as an Elite expert by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, and Squamous Cell Skin Carcinoma.

What are the latest Dystrophic Epidermolysis Bullosa Clinical Trials?
A Double-blind, Randomized, Cross-over, Feasibility Trial of Pregabalin for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-associated Neuropathic Pain and Itch
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A Phase II, Open Study to Assess Efficacy and Safety of Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated Locally Advanced/Metastatic Squamous Cell Carcinoma
Who are the sources who wrote this article ?

Published Date:updated Last, February

Published By: National Institutes of Health

What are the Latest Advances for Dystrophic Epidermolysis Bullosa?
A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
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Does fludarabine have a beneficial effect in recessive dystrophic epidermolysis bullosa?