Living with Epidermolytic ichthyosis
A skin condition present from birth with red, blistering skin that later becomes thick, especially over joints.
Understanding Epidermolytic ichthyosis
Babies may have very red skin (erythroderma) and severe blisters. Without the protection of normal skin, newborns are at risk of dehydration and skin infections. With age, blistering happens less and the skin becomes thick and often darker, especially over joints, in skin folds, and on the scalp or neck. Bacteria can grow in thick skin and cause an odor. There are two types, depending on whether the palms and soles are thickened.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes:
- Very red skin at birth (erythroderma)
- Blisters, mostly in babies
- Thick skin (hyperkeratosis)
- Darker thick skin over joints and folds
- Thick palms and soles (in the PS type)
- Skin odor from bacteria in thick skin
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet.
Also known as: bcie; bie - bullous ichthyosiform erythroderma; bullous congenital ichthyosiform erythroderma; bullous congenital ichthyosiform erythroderma of brock; bullous erythroderma ichthyosiformis congenita of brocq; bullous ichthyosiform erythroderma
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Epidermolytic ichthyosis.
Explore research for Epidermolytic ichthyosis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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