Overview
Exfoliative ichthyosis is a rare genetic skin disorder that belongs to a group of conditions called ichthyoses, which are characterized by dry, thickened, and scaly skin. In exfoliative ichthyosis, the skin tends to peel and shed in sheets or flakes, particularly on the palms of the hands and soles of the feet, though other body areas can also be affected. The condition is sometimes also referred to as "peeling skin" type ichthyosis or ichthyosis exfoliativa. The disease is caused by mutations in genes that play a role in maintaining the skin's outer barrier. Because the skin barrier does not function properly, the skin becomes dry, fragile, and prone to peeling. Symptoms are usually present from birth or early infancy. Affected individuals may notice redness, dryness, and superficial peeling of the skin that can worsen with heat, humidity, or friction. The severity can vary from mild peeling limited to the hands and feet to more widespread skin involvement. There is currently no cure for exfoliative ichthyosis. Treatment focuses on managing symptoms and protecting the skin. This typically includes regular use of moisturizers and emollients to keep the skin hydrated, gentle exfoliation, and avoiding triggers that worsen peeling. In some cases, keratolytic agents (creams that help soften and remove thickened skin) may be recommended. With proper skin care, most individuals can manage their symptoms effectively, though the condition is lifelong and requires ongoing attention.
Key symptoms:
Peeling or shedding of skin, especially on palms and solesDry, flaky skinRedness of the skinThickened skin on hands and feetSkin that blisters easilyItching or discomfortSkin sensitivity to heat and frictionCracking of the skinMild scaling on the bodySkin fragility
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
1 availableDyural 80-Lm
exfoliative dermatitis
Clinical Trials
View all trials with filters →No actively recruiting trials found for Exfoliative ichthyosis at this time.
New trials open frequently. Follow this disease to get notified.
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 Exfoliative ichthyosis.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 to manage symptoms?,Are there any prescription creams or medications that could help?,How can I tell if a skin infection is developing, and when should I seek urgent care?,Are there any activities or environmental factors I should avoid?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Exfoliative ichthyosis
What is Exfoliative ichthyosis?
Exfoliative ichthyosis is a rare genetic skin disorder that belongs to a group of conditions called ichthyoses, which are characterized by dry, thickened, and scaly skin. In exfoliative ichthyosis, the skin tends to peel and shed in sheets or flakes, particularly on the palms of the hands and soles of the feet, though other body areas can also be affected. The condition is sometimes also referred to as "peeling skin" type ichthyosis or ichthyosis exfoliativa. The disease is caused by mutations in genes that play a role in maintaining the skin's outer barrier. Because the skin barrier does not
How is Exfoliative ichthyosis inherited?
Exfoliative ichthyosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Exfoliative ichthyosis typically begin?
Typical onset of Exfoliative ichthyosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Exfoliative ichthyosis?
1 specialists and care centers treating Exfoliative ichthyosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.