Living with Epidermolysis bullosa simplex with mottled pigmentation
A rare form of EB simplex with fragile skin that blisters and a spotted mix of darker and lighter skin.
Understanding Epidermolysis bullosa simplex with mottled pigmentation
Blistering may begin at birth. People have a mottled look, with darker and lighter spots. Skin may seem to age more quickly and bruise easily.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Mottled skin color (dark and light spots)
- Fragile skin
- Thickened skin on palms and soles
- Nail changes
- Small firm bumps (hyperkeratotic papules)
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 KRT5 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 KRT5 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: ebs with mottled pigmentation; ebs-mp; ebs2f; epidermolysis bullosa simplex 2f, with mottled pigmentation; simple epidermolysis bullosa with mottled pigmentation; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex with mottled pigmentation · United States
- Epidermolysis Bullosa Medical Research FoundationEpidermolysis bullosa simplex with mottled pigmentation · 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 with mottled pigmentation.
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