Overview
Keratinopathic ichthyosis is a group of rare inherited skin disorders caused by mutations in genes that produce keratin, a key protein that gives skin its strength and structure. The condition was previously known by names such as epidermolytic ichthyosis (EI), epidermolytic hyperkeratosis, and bullous congenital ichthyosiform erythroderma (bullous CIE). It affects the outermost layer of the skin, causing it to become abnormally thick, scaly, and fragile. Babies with keratinopathic ichthyosis are often born with red, fragile skin that blisters easily. As children grow older, the blistering tends to decrease, but the skin becomes increasingly thick and scaly, especially over joints and skin folds. The thickened skin can have a ridged or corrugated appearance. A distinctive and sometimes distressing feature is a strong body odor caused by bacteria growing in the moist, thickened skin folds. The severity of the condition varies widely, even among members of the same family. There is currently no cure for keratinopathic ichthyosis. Treatment focuses on managing symptoms and improving quality of life. This includes regular moisturizing, gentle removal of excess scale, preventing and treating skin infections, and managing odor. Retinoid medications may be used in more severe cases to help reduce skin thickening. Ongoing research into gene therapy and other targeted treatments offers hope for future options.
Also known as:
Key symptoms:
Thick, scaly skin covering large areas of the bodySkin blistering, especially in newborns and young childrenRedness of the skin at birthRidged or corrugated thickened skin, particularly over jointsStrong body odor from bacterial growth in skin foldsSkin peeling or sheddingSkin infections that keep coming backPain or tenderness of the skinDifficulty with movement due to tight, thickened skin over jointsHeat intolerance due to impaired sweatingItchingThickened skin on palms of hands and soles of feetFragile skin that tears or breaks easily
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 Keratinopathic ichthyosis.
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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 Keratinopathic 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) keratinopathic ichthyosis, and does this affect the expected severity?,What daily skin care routine do you recommend, and which specific products work best?,How can we best manage the body odor associated with this condition?,When should I be concerned about a skin infection, and what should I do?,Would oral retinoids be appropriate, and what are the risks and benefits?,Are there any clinical trials or new treatments being studied that we could consider?,What is the chance of passing this condition to future children, and is genetic counseling available?
Common questions about Keratinopathic ichthyosis
What is Keratinopathic ichthyosis?
Keratinopathic ichthyosis is a group of rare inherited skin disorders caused by mutations in genes that produce keratin, a key protein that gives skin its strength and structure. The condition was previously known by names such as epidermolytic ichthyosis (EI), epidermolytic hyperkeratosis, and bullous congenital ichthyosiform erythroderma (bullous CIE). It affects the outermost layer of the skin, causing it to become abnormally thick, scaly, and fragile. Babies with keratinopathic ichthyosis are often born with red, fragile skin that blisters easily. As children grow older, the blistering te
How is Keratinopathic ichthyosis inherited?
Keratinopathic ichthyosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Keratinopathic ichthyosis typically begin?
Typical onset of Keratinopathic ichthyosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Keratinopathic ichthyosis?
6 specialists and care centers treating Keratinopathic ichthyosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.