Living with Autosomal dominant epidermolytic ichthyosis
A rare inherited skin condition with red, scaly skin and blistering, present at or soon after birth.
Understanding Autosomal dominant epidermolytic ichthyosis
It shows at birth or soon after, with red, scaly skin and severe blistering, especially early in life. Blisters may still appear after skin injury or in hot weather. Skin can itch, have a strong odor, and get infected more easily. People may sweat less and have nail changes.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Red, scaly skin
- Blistering, especially early in life
- Itchy skin
- Skin that gets infected more easily
- Less sweating
- 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 genetic 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
Foundation for Ichthyosis and Related Skin Types 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: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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 the KRT1 or KRT10 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal dominant epidermolytic ichthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant epidermolytic ichthyosis.
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