Overview
Annular epidermolytic ichthyosis (AEI) is a very rare genetic skin disorder that belongs to a group of conditions called ichthyoses, which cause widespread scaling and thickening of the skin. AEI is sometimes also called cyclic ichthyosis with epidermolytic hyperkeratosis. It is caused by specific mutations in genes that produce keratin, a protein that gives skin its strength and structure. In this condition, the skin develops distinctive ring-shaped (annular) or wave-like patterns of redness and scaling that can move across the body over time. These patches often have a polycyclic border, meaning they form curved, overlapping shapes. People with AEI are typically born with reddened skin and may have blistering in the newborn period. Over time, the blistering tends to decrease, but the characteristic migrating scaly plaques become more prominent. The skin can be fragile and prone to peeling. Some patients also experience thickened skin on the palms and soles. The condition can cause significant discomfort, itching, and cosmetic concerns. There is currently no cure for annular epidermolytic ichthyosis. Treatment focuses on managing symptoms, keeping the skin moisturized, reducing scaling, and preventing skin infections. Emollients (moisturizing creams), keratolytic agents (products that help remove thick scales), and sometimes oral retinoids may be used. Careful skin care is essential throughout life. While the condition does not typically shorten lifespan, it can significantly affect quality of life.
Also known as:
Key symptoms:
Ring-shaped or wave-like patches of red, scaly skinSkin blistering, especially in newbornsThickened, rough skinSkin peeling and flakingMigrating scaly plaques that move across the body over timeItching or skin discomfortRedness of the skinThickened skin on palms and solesFragile skin that breaks easilySkin infections due to broken skin barrierUnpleasant skin odor from bacterial colonization of scales
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Annular epidermolytic ichthyosis.
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Specialists
View all specialists →No specialists are currently listed for Annular epidermolytic ichthyosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Annular epidermolytic ichthyosis.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation is causing my (or my child's) condition?,What is the best daily skin care routine for managing this condition?,Are there any prescription treatments, such as retinoids, that might help?,How can I tell if a skin infection is developing, and when should I seek urgent care?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested for this genetic mutation?,Can you recommend a counselor or support group for coping with the emotional impact of this condition?
Common questions about Annular epidermolytic ichthyosis
What is Annular epidermolytic ichthyosis?
Annular epidermolytic ichthyosis (AEI) is a very rare genetic skin disorder that belongs to a group of conditions called ichthyoses, which cause widespread scaling and thickening of the skin. AEI is sometimes also called cyclic ichthyosis with epidermolytic hyperkeratosis. It is caused by specific mutations in genes that produce keratin, a protein that gives skin its strength and structure. In this condition, the skin develops distinctive ring-shaped (annular) or wave-like patterns of redness and scaling that can move across the body over time. These patches often have a polycyclic border, mea
How is Annular epidermolytic ichthyosis inherited?
Annular epidermolytic ichthyosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Annular epidermolytic ichthyosis typically begin?
Typical onset of Annular epidermolytic ichthyosis is neonatal. Age of onset can vary across affected individuals.