Epidermolysis Bullosa with Pyloric Atresia: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Epidermolysis Bullosa with Pyloric Atresia?
A dermatologist (a skin doctor) and a pediatrician (a children's doctor) usually lead care for this condition. A pediatric surgeon (a children's surgeon) repairs the stomach blockage soon after birth. A clinical geneticist (a doctor who treats inherited conditions) can also help. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is epidermolysis bullosa with pyloric atresia?
Epidermolysis bullosa with pyloric atresia, or EB-PA, is a condition that affects the skin and digestive tract. It is one form of epidermolysis bullosa, a group of genetic conditions that make skin fragile. Babies with EB-PA are also born with pyloric atresia. This is a blockage in the lower part of the stomach, called the pylorus.
EB-PA appears to be rare.
Symptoms
Babies with EB-PA often have these signs from birth:
- Widespread blistering and areas of missing skin.
- New blisters from minor injury or friction, such as rubbing or scratching.
- Blisters on mucous membranes, such as the moist lining of the mouth and digestive tract.
- Vomiting, a swollen belly, and no stool, which are signs of pyloric atresia.
- Fused skin between the fingers and toes, and nail problems.
- Tight joints called contractures, which limit movement, and hair loss.
- Some babies are also born with malformations of the urinary tract, including the kidneys and bladder.
Some people who live past infancy get red, bumpy patches called granulation tissue. They form mostly around the mouth, nose, fingers, and toes. It can also build up in the airway and make breathing hard.
Causes and who gets it
EB-PA can be caused by changes in the ITGA6, ITGB4, or PLEC genes. These genes help make proteins that attach the top layer of skin to the layers under it. When these proteins are missing or do not work, rubbing can make the skin layers separate and form blisters.
EB-PA is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have changes. The parents each carry one changed copy but typically do not show signs of the condition.
How doctors diagnose it
For epidermolysis bullosa, doctors usually ask about family and medical history and closely examine the skin. A skin biopsy checks a small skin sample under a microscope. It shows which layers of skin are affected. Genetic testing finds which gene changes a person has. People who have genetic testing should see a specialist or genetic counselor to help them understand the results.
Treatment
Pyloric atresia is life-threatening and must be repaired with surgery soon after birth. There is no cure for epidermolysis bullosa. A topical gene therapy was approved for wounds in dystrophic epidermolysis bullosa, which is a different type. Treatment aims to control symptoms in these ways:
- Managing pain and itch. A doctor may recommend pain medicine for pain from blisters and open wounds.
- Caring for the skin. When possible, use non-adhesive bandages.
- Treating infection. A doctor may prescribe oral or topical antibiotics.
- Keeping up movement. A physical or occupational therapist can help improve, restore, or maintain the ability to move.
- Good nutrition. A dietitian can help find foods that are nutritious and easy to eat.
- People who are not getting proper nutrition may need surgery to place a feeding tube into the stomach.
- If scarring narrows the esophagus or urinary tract, surgery can widen the passageway.
When to see a doctor
Contact your doctor right away if you see signs of infection. These include more redness, more pain in a skin sore, red streaks from a wound or blister, pus, or fever. A newborn with vomiting, a swollen belly, and no stool needs care right away. These are signs of pyloric atresia, which is life-threatening. Call 911 or go to the emergency room if there is severe trouble breathing, fainting, or bleeding that will not stop.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Care for EB-PA involves several specialists, so such a doctor can help keep visits and care plans organized.
Common questions
Is epidermolysis bullosa with pyloric atresia life threatening?
Yes, it can be. Many infants with this condition do not survive beyond the first year of life. In those who do, the condition may improve with time.
Can epidermolysis bullosa with pyloric atresia be cured?
No, there is no cure for epidermolysis bullosa. Doctors treat the symptoms, and scientists continue to research possible treatments and cures.
How is epidermolysis bullosa with pyloric atresia inherited?
It is inherited in an autosomal recessive pattern. This means a child gets a changed copy of the gene from each parent. The parents usually have no signs of the condition.
Does the blistering get better with time?
It can for some people. In those who survive, the condition may improve, and some people have little or no blistering later in life.
Sources
- MedlinePlus Genetics - Epidermolysis bullosa with pyloric atresia
- National Institute of Arthritis and Musculoskeletal and Skin Diseases - Epidermolysis Bullosa Symptoms, Types and Causes
- National Institute of Arthritis and Musculoskeletal and Skin Diseases - Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take
Medical Disclaimer
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