Sjogren-Larsson Syndrome (SLS) is a condition that happens when the body can’t properly break down certain fatty substances. This leads to various symptoms affecting the skin, bones, nervous system, and eyes.
Kids with SLS are often born a few weeks early, and most will develop dry, scaly skin (ichthyosis) in their first year. This skin is thick and looks dark and scaly, and although it can be itchy, the skin on the face usually stays normal. Some people with SLS may also have curved spines and be shorter than average. Neurological symptoms usually show up in the first two years of life. These can include delays in development, speech problems, and seizures. Many people with SLS have intellectual disability. Babies with SLS may take longer to learn to crawl and walk because their leg and arm muscles are stiff. Some may never be able to walk. During an eye exam, white dots may be seen in the back of the eye (retina), and SLS can also affect vision and make eyes sensitive to bright lights. Unfortunately, there’s no cure for the main problem causing SLS. Current treatments focus on easing the symptoms. For the scaly and tough skin, daily baths, moisturizing creams, and special creams or lotions can help remove dead skin cells. Adults with SLS might benefit from drugs called retinoids to improve skin condition. Research trials are exploring a drug called zileuton to reduce skin itching, but it’s not yet approved by the FDA. Some studies suggest that adjusting the diet, especially fat intake with supplements, might help with skin symptoms.
SLS is caused by pathogenic (disease-causing) variants in the ALDH3A2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are congenital icthyosis mental retardation spasticity syndrome, FALDH deficiency, fatty aldehyde dehydrogenase deficiency, and ichthyosis oligophrenia syndrome.
Resources:
United Leukodystrophy Foundation
Revised November 2023
