Overview
Autosomal ichthyosis syndrome with prominent neurologic signs is a group of rare inherited conditions where the skin and the nervous system are both affected. The term 'ichthyosis' refers to dry, thickened, scaly skin that may look like fish scales. In these syndromes, the skin problems occur alongside significant neurological (brain and nerve) issues. This is not a single disease but rather a category that includes several related conditions, such as Sjögren-Larsson syndrome, Refsum disease, and certain forms of neutral lipid storage disease, among others. The skin symptoms typically include widespread dryness, scaling, and thickening that can range from mild to severe. The neurological features vary depending on the specific syndrome but may include intellectual disability, seizures, spasticity (stiff muscles), problems with balance and coordination, and vision or hearing difficulties. These conditions are usually present from birth or early childhood. Treatment is mostly supportive and depends on the specific underlying condition. Skin care with moisturizers and keratolytic agents (creams that help remove thick scales) is a mainstay. Neurological symptoms are managed with physical therapy, occupational therapy, anti-seizure medications if needed, and educational support. Some specific subtypes, like Refsum disease, may benefit from dietary modifications. Genetic testing is essential to identify the exact condition, which helps guide treatment and family planning. Because these are lifelong conditions, a team of specialists working together provides the best care.
Key symptoms:
Dry, thick, scaly skin over much of the bodyIntellectual disability or learning difficultiesSeizures or epilepsyStiff or tight muscles (spasticity)Difficulty walking or problems with balanceDelayed developmental milestonesVision problems or eye abnormalitiesHearing lossSpeech difficultiesShort stature or poor growthItchy skinRedness of the skinWeakness in the arms or legsProblems with coordination
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventUniversity of Nebraska — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal ichthyosis syndrome with prominent neurologic signs.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Autosomal ichthyosis syndrome with prominent neurologic 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 prominent neurologic signs.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific syndrome within this group does my child or I have, and what gene is involved?,What is the expected course of this condition over time?,What skin care routine do you recommend, and are there prescription creams that might help?,Are there any dietary changes that could help manage this condition?,What therapies (physical, occupational, speech) should we start, and how often?,Should other family members be tested for this genetic condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Autosomal ichthyosis syndrome with prominent neurologic signs
What is Autosomal ichthyosis syndrome with prominent neurologic signs?
Autosomal ichthyosis syndrome with prominent neurologic signs is a group of rare inherited conditions where the skin and the nervous system are both affected. The term 'ichthyosis' refers to dry, thickened, scaly skin that may look like fish scales. In these syndromes, the skin problems occur alongside significant neurological (brain and nerve) issues. This is not a single disease but rather a category that includes several related conditions, such as Sjögren-Larsson syndrome, Refsum disease, and certain forms of neutral lipid storage disease, among others. The skin symptoms typically include
Are there clinical trials for Autosomal ichthyosis syndrome with prominent neurologic signs?
Yes — 1 recruiting clinical trial is currently listed for Autosomal ichthyosis syndrome with prominent neurologic signs on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.