Epidermolysis Bullosa with Pyloric AtresiaSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Durham, North Carolina. She has been practicing medicine for over 23 years. Dr. Kroshinsky is rated as a Distinguished provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Calciphylaxis, Cellulitis, Calcinosis, and Acute Febrile Neutrophilic Dermatosis. Dr. Kroshinsky is board certified in American Board Of Dermatology, Dermatology.
Dermatologists Of Southwest Ohio, Inc.
Anne Lucky is a Dermatologist practicing medicine in Cincinnati, Ohio. Dr. Lucky is rated as a Distinguished provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. 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.
Stanford Hospital And Clinics
Kerri Rieger is a Dermatologist practicing medicine in Palo Alto, California. Dr. Rieger is rated as a Distinguished provider by MediFind in the treatment of Epidermolysis Bullosa with Pyloric Atresia. She is also highly rated in 97 other conditions, according to our data. Her clinical expertise encompasses Basal Cell Skin Cancer, Mycosis Fungoides, Melanoma, and Sebaceous Adenoma.
Published Date: February 01, 2018
Published By: National Institutes of Health