Sjögren-Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms.
Symptoms of Sjogren-Larsson syndrome typically occur within the first two years of life with major symptom is ichthyosis. Patients can also develop following symptoms: developmental delay, intellectual disability, speech difficulties, seizures, paralysis, leg spasms, itching.
Sjögren-Larsson syndrome is caused mutations in the fatty aldehyde dehydrogenase (FADH) gene, which is located on chromosome 17. The protein made by the FADH gene is responsible for breaking down medium- and long-chain fatty aldehydes.