Inherited non-syndromic ichthyosis

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:281082
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Inherited non-syndromic ichthyosis is a group of genetic skin disorders where the skin becomes abnormally dry, thick, and scaly. The word 'ichthyosis' comes from the Greek word for fish, because the skin can look like fish scales. In non-syndromic forms, the skin is the main organ affected — unlike syndromic ichthyosis, there are no major problems in other body systems like the brain or eyes. This group includes several subtypes such as ichthyosis vulgaris, lamellar ichthyosis, congenital ichthyosiform erythroderma (CIE), and autosomal recessive congenital ichthyosis (ARCI), among others. The severity varies widely. Some people have mild dryness and fine scaling, while others are born with a tight, shiny membrane called a collodion membrane that sheds in the first weeks of life, revealing red, scaly skin underneath. The scaling can affect the entire body or be concentrated on certain areas like the legs, arms, or trunk. Skin tightness can limit movement, and cracking can cause pain and increase the risk of infection. There is currently no cure for inherited non-syndromic ichthyosis. Treatment focuses on managing symptoms, primarily through regular use of moisturizers, keratolytic creams (which help soften and remove scales), and in more severe cases, oral retinoids such as acitretin. Bathing routines and humidity control also play important roles. With consistent skin care, many people with milder forms lead full, active lives, though those with severe subtypes may face significant daily challenges.

Key symptoms:

Dry, scaly skin over large areas of the bodyThickened skin, especially on the palms and solesSkin tightness that can limit movementRedness of the skin (erythroderma) in some formsCracking and fissuring of the skinCollodion membrane at birth in severe formsDifficulty sweating, leading to overheatingItchingSkin infections from cracks in the skinEctropion (eyelids turning outward) in severe casesEclabium (lips turning outward) in severe casesHair loss or thin hair in some formsThickened nailsReduced range of motion in fingers or joints

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Inherited non-syndromic ichthyosis.

View clinical trials →

No actively recruiting trials found for Inherited non-syndromic ichthyosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Inherited non-syndromic ichthyosis community →

No specialists are currently listed for Inherited non-syndromic ichthyosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Inherited non-syndromic ichthyosis.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Inherited non-syndromic ichthyosisForum →

No community posts yet. Be the first to share your experience with Inherited non-syndromic ichthyosis.

Start the conversation →

Latest news about Inherited non-syndromic ichthyosis

No recent news articles for Inherited non-syndromic ichthyosis.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 subtype of ichthyosis does my child (or do I) have, and what gene is involved?,What is the best daily skin care routine for this specific type?,Would oral retinoids be helpful, and what are the risks and side effects?,Are there any clinical trials or new treatments being studied that I should know about?,How can we prevent skin infections, and what signs should prompt a doctor visit?,What precautions should we take regarding heat and exercise?,Should other family members be tested, and what are the chances of passing this to future children?

Common questions about Inherited non-syndromic ichthyosis

What is Inherited non-syndromic ichthyosis?

Inherited non-syndromic ichthyosis is a group of genetic skin disorders where the skin becomes abnormally dry, thick, and scaly. The word 'ichthyosis' comes from the Greek word for fish, because the skin can look like fish scales. In non-syndromic forms, the skin is the main organ affected — unlike syndromic ichthyosis, there are no major problems in other body systems like the brain or eyes. This group includes several subtypes such as ichthyosis vulgaris, lamellar ichthyosis, congenital ichthyosiform erythroderma (CIE), and autosomal recessive congenital ichthyosis (ARCI), among others. The

At what age does Inherited non-syndromic ichthyosis typically begin?

Typical onset of Inherited non-syndromic ichthyosis is neonatal. Age of onset can vary across affected individuals.