Living with Autosomal recessive epidermolytic ichthyosis
A rare inherited skin condition with red, blistering skin at birth that later becomes thick and scaly.
Understanding Autosomal recessive epidermolytic ichthyosis
Babies have widespread skin redness with blistering and open areas, and the skin may look like a collodion presentation (tight and shiny) at birth. Later in life, the skin gradually becomes thick and scaly (hyperkeratosis). The palms and soles are not affected. It is not part of a larger syndrome.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Redness over the whole body at birth
- Skin blistering and erosions
- Tight, shiny skin at birth
- Thick, scaly skin later in life
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 KRT10 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
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
It is caused by changes in the KRT10 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arei
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive 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 recessive epidermolytic ichthyosis.
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