Overview
Autosomal ichthyosis syndrome with other associated signs is a group of rare genetic skin disorders that are inherited in an autosomal pattern (meaning the gene change is carried on one of the non-sex chromosomes). These conditions are characterized by ichthyosis — a term that describes dry, thickened, scaly skin that may resemble fish scales. What sets this group apart from simple ichthyosis is that the skin problems occur alongside other body system involvement, which can include neurological issues, hair abnormalities, skeletal problems, immune system dysfunction, or other organ involvement depending on the specific syndrome. The skin changes are usually present from birth or develop in early infancy. The severity of both the skin disease and the associated features can vary widely from person to person, even within the same family. The scaly skin results from problems with how the outer layer of skin forms, sheds, or maintains its protective barrier. Treatment is primarily supportive and symptom-based. There is currently no cure for these conditions. Skin care focuses on keeping the skin moisturized and using medications that help remove excess scale. Management of the associated features depends on which body systems are affected and may require a team of different specialists working together. Early diagnosis and coordinated care can significantly improve quality of life.
Key symptoms:
Dry, thick, scaly skin over large areas of the bodySkin that looks like fish scalesSkin redness or irritationCracking or splitting of the skinTight skin that limits movementHair abnormalities such as thin or brittle hairNail changes or abnormalitiesDifficulty sweating or overheatingEye problems such as dryness or corneal issuesHearing difficulties in some typesNeurological problems such as developmental delay in some typesSkeletal abnormalities in some typesRecurrent skin infectionsItching or discomfort
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal ichthyosis syndrome with other associated signs.
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Specialists
View all specialists →No specialists are currently listed for Autosomal ichthyosis syndrome with other associated signs.
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 ichthyosis syndrome with other associated signs.
Community
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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 type of ichthyosis syndrome does my child or I have, and what gene is involved?,What other body systems should be monitored, and how often do we need check-ups?,What is the best daily skin care routine, and which products do you recommend?,Are there any medications like retinoids that might help, and what are the risks?,What signs of complications should I watch for that would need urgent medical attention?,Are there any clinical trials or new treatments being studied for this condition?,What is the chance of passing this condition to future children, and should we see a genetic counselor?
Common questions about Autosomal ichthyosis syndrome with other associated signs
What is Autosomal ichthyosis syndrome with other associated signs?
Autosomal ichthyosis syndrome with other associated signs is a group of rare genetic skin disorders that are inherited in an autosomal pattern (meaning the gene change is carried on one of the non-sex chromosomes). These conditions are characterized by ichthyosis — a term that describes dry, thickened, scaly skin that may resemble fish scales. What sets this group apart from simple ichthyosis is that the skin problems occur alongside other body system involvement, which can include neurological issues, hair abnormalities, skeletal problems, immune system dysfunction, or other organ involvement
At what age does Autosomal ichthyosis syndrome with other associated signs typically begin?
Typical onset of Autosomal ichthyosis syndrome with other associated signs is neonatal. Age of onset can vary across affected individuals.