Living with Epidermolysis bullosa simplex 5B, with muscular dystrophy
A rare inherited form of EB simplex with widespread blisters along with muscle disease (muscular dystrophy).
Understanding Epidermolysis bullosa simplex 5B, with muscular dystrophy
It is seen in newborns and infants. Along with skin blistering, people can have muscle weakness (muscular dystrophy). GARD also lists eye muscle weakness, a drooping eyelid, hair loss, and tooth and nail changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Muscle disease (myopathy)
- Drooping upper eyelid (ptosis)
- Weak eye muscles (ophthalmoparesis)
- Hair loss
- Tooth enamel problems and nail changes
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, eye disease specialists, 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 and The Speak Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: DEBRA of America, The Speak Foundation
- 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 muscular dystrophy; ebs-md; ebs5b; epidermolysis bullosa simplex and limb-girdle muscular dystrophy; epidermolysis bullosa simplex with muscular dystrophy; limb girdle muscular dystrophy with epidermolysis bullosa simplex
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 5B, with muscular dystrophy · United States
- The Speak FoundationEpidermolysis bullosa simplex 5B, with muscular dystrophy · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex 5B, with muscular dystrophy · 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 5B, with muscular dystrophy.
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