Living with Epidermolysis bullosa simplex 5C, with pyloric atresia
A rare inherited form of EB simplex with severe blisters, missing skin at birth, and a blocked stomach outlet.
Understanding Epidermolysis bullosa simplex 5C, with pyloric atresia
Babies are born with widespread skin blistering and areas of missing skin. Pyloric atresia means the passage from the stomach to the intestine is blocked. It can be noticed before birth as extra amniotic fluid (polyhydramnios). Other issues include slow growth, anemia, mouth blisters, tooth enamel changes, and urinary tract problems. Skin fragility and nail changes last throughout life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters and erosions
- Areas of missing skin at birth
- Blocked stomach outlet (pyloric atresia)
- Vomiting
- Swollen belly
- Blisters in the mouth
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 and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PLEC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
DEBRA of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America
- 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 DEBRA of America 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 PLEC gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: ebs with pyloric atresia; ebs-pa; ebs5c; epidermolysis bullosa simplex co-occurrent with pyloric atresia; epidermolysis bullosa simplex with pyloric atresia; plec-related epidermolysis bullosa with pyloric atresia
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 5C, with pyloric atresia · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Epidermolysis bullosa simplex 5C, with pyloric atresia.
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