Dystrophic Epidermolysis BullosaSymptoms, Doctors, Treatments, Advances & More
Dystrophic Epidermolysis Bullosa Overview
Learn About 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.
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.
Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people.
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.
Dermatologists Of Southwest Ohio, Inc.
Anne Lucky is a Dermatologist practicing medicine in Blue Ash, Ohio. Dr. Lucky is rated as an Elite provider by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, and Dominant Dystrophic Epidermolysis Bullosa. Dr. Lucky is board certified in American Board Of Pediatrics and American Board Of Dermatology . Dr. Lucky is currently accepting new patients.
Alain Hovnanian practices practicing medicine in Paris, France. Mr. Hovnanian is rated as an Elite expert by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Netherton Syndrome, Olmsted Syndrome, Dystrophic Epidermolysis Bullosa, and Epidermolysis Bullosa.
St Vincent's Hospital Melbourne
Dedee Murrell practices practicing medicine in Fitzroy, Australia. Murrell is rated as an Elite expert by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. They are also highly rated in 44 other conditions, according to our data. Their clinical expertise encompasses Epidermolysis Bullosa, Pemphigus, Pemphigus Vulgaris, and Pemphigus Foliaceus.
Summary: This is a Phase 2, double-blind, randomized, vehicle-controlled study designed to evaluate efficacy, safety, and tolerability of topically applied TCP-25 gel in patients with confirmed DEB or JEB. The study will implement intrasubject randomization, ie, a pair of matching index wounds will be randomly assigned to be treated with a local application of either TCP 25 gel or vehicle gel.
Summary: The goal of this observational study is to evaluate the long-term safety and wound healing durability (up to 15 years) for participants with Recessive Dystrophic Epidermolysis Bullosa (RDEB) who were treated with pz-cel. The main questions it aims to answer are: * The long-term safety profile of pz-cel. * The wound healing durability of pz-cel. * The occurrence of all malignancies after treatment ...
Published Date: February 01, 2020
Published By: National Institutes of Health