Dystrophic Epidermolysis BullosaSymptoms, Doctors, Treatments, Advances & More
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.
Stanford University Medical Center
Jean Tang is a Dermatologist practicing medicine in Redwood City, California. Dr. Tang is rated as an Elite provider by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa, Nevoid Basal Cell Carcinoma Syndrome, and Basal Cell Skin Cancer.
Children's Hospital Colorado
Anna Bruckner is a Pediatrics provider practicing medicine in Aurora, Colorado. Dr. Bruckner is rated as an Elite provider by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, and Dominant Dystrophic Epidermolysis Bullosa.
Dermatologists Of Southwest Ohio, Inc.
Anne Lucky is a Dermatologist practicing medicine in Cincinnati, Ohio. Dr. Lucky is rated as an Elite provider by MediFind in the treatment of Dystrophic Epidermolysis Bullosa. She is also highly rated in 16 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 Dermatology and American Board Of Pediatrics. Dr. Lucky is currently accepting new patients.
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 study objective is to see if IV IgG treatment in Recessive Dystrophic Epidermolysis Bullosa (RDEB) skin in conjunction with VYJUVEK treatment improves wound healing and affects the levels of C7 and HSV-1 antibody levels in serum. Fewer wounds, more rapidly healing wounds, and decreased C7 and HSV-1 antibodies could improve quality of life.
Published Date: February 01, 2020
Published By: National Institutes of Health