Overview
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited skin disorders that are present from birth. The condition affects the skin's ability to form a normal protective barrier, leading to widespread dryness, scaling, and thickening of the skin across much of the body. ARCI includes several subtypes, the most well-known being lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Some babies with ARCI are born encased in a tight, shiny membrane called a collodion membrane, which cracks and peels off within the first few weeks of life. After the membrane sheds, the underlying skin is typically red, dry, and covered with scales that can range from fine and white to thick, dark, and plate-like. The severity of ARCI varies widely. Some people have relatively mild scaling, while others experience significant skin tightness that can limit movement, cause the eyelids to turn outward (ectropion), or pull the lips into an unusual position. The skin may have difficulty sweating normally, which can lead to overheating, especially in warm weather. Itching, skin infections, and hair loss can also occur. There is currently no cure for ARCI. Treatment focuses on keeping the skin moisturized and soft using emollients, keratolytic creams (which help remove scales), and sometimes oral retinoids such as acitretin. With consistent skin care and medical follow-up, many people with ARCI lead full and active lives, though the condition requires lifelong management.
Also known as:
Key symptoms:
Thick, plate-like or fine white scales covering most of the bodyDry, tight skinRedness of the skin (erythroderma)Collodion membrane at birth (tight, shiny skin covering)Eyelids turning outward (ectropion)Lips pulled outward or appearing thickDifficulty sweating and overheatingItchingThickened skin on palms and solesHair thinning or hair lossSkin infectionsTightness of skin limiting finger or joint movementEar canal blockage from scale buildupNail abnormalitiesReduced ability to grow normally in severe cases
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
No FDA-approved treatments are currently listed for Autosomal recessive congenital 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 Autosomal recessive congenital ichthyosis.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific subtype of ARCI does my child have, and which gene is affected?,What is the best daily skin care routine for this specific type of ichthyosis?,Would oral retinoids be helpful, and what are the risks and side effects?,How can we prevent overheating, and what should we do if it happens?,Are there any clinical trials or new treatments being studied for ARCI?,What eye care is needed, and how often should we see an ophthalmologist?,What resources are available for emotional and psychological support for our family?
Common questions about Autosomal recessive congenital ichthyosis
What is Autosomal recessive congenital ichthyosis?
Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited skin disorders that are present from birth. The condition affects the skin's ability to form a normal protective barrier, leading to widespread dryness, scaling, and thickening of the skin across much of the body. ARCI includes several subtypes, the most well-known being lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). Some babies with ARCI are born encased in a tight, shiny membrane called a collodion membrane, which cracks and peels off within the first few weeks of life. After the membrane shed
How is Autosomal recessive congenital ichthyosis inherited?
Autosomal recessive congenital ichthyosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive congenital ichthyosis typically begin?
Typical onset of Autosomal recessive congenital ichthyosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Autosomal recessive congenital ichthyosis?
3 specialists and care centers treating Autosomal recessive congenital ichthyosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.