Living with Junctional epidermolysis bullosa with pyloric atresia
A severe form of junctional epidermolysis bullosa with blisters at birth and a blocked outlet of the stomach.
Understanding Junctional epidermolysis bullosa with pyloric atresia
Blistering is widespread at birth. The pylorus, the opening from the stomach to the intestine, is not formed or open (pyloric atresia), and other parts of the digestive tract are rarely affected. GARD also lists kidney and bladder differences and weak tooth enamel. It starts during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering skin
- Blocked stomach outlet (pyloric atresia)
- Bloated belly and vomiting
- Kidney and bladder differences
- Blood in urine
- Weak tooth enamel
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ITGB4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epidermolysis Bullosa Medical Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ITGB4 gene are listed. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aplasia cutis congenita with gastrointestinal atresia; carmi syndrome; eb-pa-acc; epidermolysis bullosa junctionalis with pyloric atresia; epidermolysis bullosa, junctional 5b, with pyloric atresia; epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita
Patient organizations
- Epidermolysis Bullosa Medical Research FoundationJunctional epidermolysis bullosa with pyloric atresia · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Junctional epidermolysis bullosa with pyloric atresia.
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