Living with Epidermolysis bullosa simplex 1A, generalized severe
A severe form of epidermolysis bullosa simplex with widespread small blisters starting in newborns.
Understanding Epidermolysis bullosa simplex 1A, generalized severe
It is present in newborns. Some babies are born with areas of missing skin. Other features include fragile skin, blisters in the mouth, feeding difficulties, slow growth, nail changes, and scarring.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Fragile skin
- Areas of missing skin at birth
- Blisters in the mouth
- Feeding difficulties
- Slow growth
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
This condition is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: autosomal dominant generalized ebs, severe form; autosomal dominant generalized epidermolysis bullosa simplex, severe form; dowling-meara epidermolysis bullosa; ebs-gen sev; ebs, generalised severe; ebs, generalized severe
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 1A, generalized severe · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex 1A, generalized severe · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolysis bullosa simplex 1A, generalized severe.
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