Living with Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
A very rare condition with blisters on the front of the lower legs, enamel and toenail changes, and intellectual disability.
Understanding Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Blistering starts later and is surrounded by redness, and it is limited to the front of the lower legs. People also have toenail changes, tooth enamel defects, and mild to severe intellectual disability. Some have a displaced lens and mild facial differences. GARD notes there have been no further descriptions in the literature since 1992. It starts in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Blisters on the front of the lower legs
- Toenail changes
- Tooth enamel defects
- Mild to severe intellectual disability
- Displaced lens of the eye
- Mild facial differences
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 brain and nervous system specialists, genetic specialists, gum, teeth and mouth 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
- Brain and nervous system specialists (neurologists); 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
GARD says changes in genes (also called variants) cause this condition. It does not name specific genes or describe inheritance.
Also known as: late-onset localized jeb-intellectual disability syndrome
Patient organizations
- DEBRA of AmericaLate-onset localized junctional epidermolysis bullosa-intellectual disability syndrome · United States
- Epidermolysis Bullosa Medical Research FoundationLate-onset localized junctional epidermolysis bullosa-intellectual disability syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome.
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