Living with Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
A rare inherited form of EB simplex with blisters, scarring, and hair loss, present from birth.
Understanding Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss
It is present from birth, sometimes with patches of missing skin on the arms and legs. Blisters continue during childhood and heal with scars and thinned skin. Skin fragility lessens in adulthood. Adults can have sparse body hair, scalp hair loss, thick palms and soles, and nail changes. A heart muscle problem (dilated cardiomyopathy) can appear in young adulthood or later.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Hair loss (alopecia)
- Thinning of the skin (atrophy)
- Patches of lighter skin
- Thick skin on palms and soles
- Overgrown, curved toenails
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 KLHL24 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 KLHL24 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: ebs6; ebssh; epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy; epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy; epidermolysis bullosa simplex, generalized, with scarring and hair loss; epidermolysis bullosa simplex, generalized, with scarring and hair loss
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 6, generalized, with scarring and hair loss · 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 6, generalized, with scarring and hair loss.
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