Learn About Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.
EB-PA can be caused by mutations in the ITGA6, ITGB4, and PLEC genes. These genes provide instructions for making proteins with critical roles in the skin and digestive tract.
EB-PA appears to be a rare condition, although its prevalence is unknown. At least 100 affected individuals have been reported worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Duke Pediatric Dermatology Patterson Place
Daniela Kroshinsky is a Dermatologist in Durham, North Carolina. Dr. Kroshinsky is rated as a Distinguished provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. Her top areas of expertise are Calciphylaxis, Cellulitis, Calcinosis, and Acute Febrile Neutrophilic Dermatosis. Dr. Kroshinsky is currently accepting new patients.
Lacey Kruse is a Dermatologist in Chicago, Illinois. Dr. Kruse is rated as an Advanced provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. Her top areas of expertise are Familial Multiple Nevi Flammei, Stork Bite, Aplasia Cutis Congenita, and Linear Hamartoma Syndrome.
Johns Hopkins Outpatient Center
Dr. Grant Anhalt is a professor of dermatology at the Johns Hopkins University School of Medicine. His areas of clinical expertise include autoimmune skin diseases and dermatoimmunology. Dr. Anhalt serves as the director of the Dermatoimmunology Laboratory at the Johns Hopkins School of Medicine. He received his undergraduate degree and his M.D. from the University of Manitoba. He completed a residency in internal medicine at the Health Sciences Center in Winnipeg, Canada and a residency in dermatology at the University of Michigan. He performed a fellowship in immunodermatology at the University of Michigan Medical Center. Dr. Anhalt joined the Johns Hopkins faculty in 1982. He was interim chair of the Department of Dermatology from 1996 to 2001. His research interests include autoimmunity, bullous skin diseases and pemphigus and pemphigoid. Dr. Anhalt serves on the medical advisory board for the International Pemphigus & Pemphigoid Foundation. He has been recognized as a top doctor in the Washington Post Magazine, Baltimore Magazine and Castle Connolly Guide. He is a member of several professional organizations, including the American Academy of Dermatology, American Dermatologic Association and American Society for Clinical Investigation. CV http://www.hopkinsmedicine.org/dermatology/our_experts/CV/Anhalt_CV_2014.docx. Dr. Anhalt is rated as an Advanced provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. His top areas of expertise are Pemphigus Vulgaris, Pemphigus, Pemphigus Foliaceus, and Bullous Pemphigoid.
Published Date: February 01, 2018
Published By: National Institutes of Health