Living with Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
A rare inherited form of EB simplex with blisters starting in newborns, mostly on the hands and feet or all over.
Understanding Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
Blistering may be widespread or mostly on the hands and feet. Scarring and nail changes are common, along with thickened skin on the palms and soles. Other effects can include anemia, slow growth, mouth blisters, cavities, and constipation. For some, blistering lasts throughout life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin blisters
- Blisters in the mouth
- Skin erosions
- Thickened skin on palms and soles
- Nail changes (fingernails and toenails)
- Blisters on the palms and soles
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 KRT14 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 KRT14 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: autosomal recessive generalized ebs; autosomal recessive generalized epidermolysis bullosa simplex; ebs-ar krt14; ebs, autosomal recessive k14; epidermolysis bullosa simplex, autosomal recessive type 1; krt14-related autosomal recessive ebs
Patient organizations
- DEBRA of AmericaEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive · 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 1D, generalized, intermediate or severe, autosomal recessive.
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