Living with Late-onset junctional epidermolysis bullosa
A mild form of junctional epidermolysis bullosa with blisters around the nails that starts in childhood or young adulthood.
Understanding Late-onset junctional epidermolysis bullosa
Blistering first occurs around the nails, with nail changes and loss, and then affects the hands and feet and, to a lesser extent, the elbows and knees. Blisters heal with thin scars. Fingerprints can disappear, and palms and soles may sweat more. Problems outside the skin are limited to soft tissue changes in the mouth and tooth enamel defects with cavities.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering skin
- Fragile skin
- Poorly formed or missing nails
- Missing fingerprints
- Weak tooth enamel
- Cavities
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 COL17A1 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); Gum, teeth and mouth specialists (odontologists); 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 COL17A1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: eb progressive; epidermolysis bullosa progressiva; jeb-lo; late-onset jeb
Patient organizations
- DEBRA of AmericaLate-onset junctional epidermolysis bullosa · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Late-onset junctional epidermolysis bullosa.
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