What is Sjogren-Larsson Syndrome or SLS?
Sjogren-Larsson Syndrome (SLS) is a genetic disorder that tends to affect infants born prematurely, although any individuals with the genetic mutation can have it. The disorder is characterized by dry, scaly skin, neurological problems, and eye problems that can appear in early childhood.
What Are the Symptoms?
Symptoms of SLS typically occur within the first two years of life, with premature birth and dry, scaly skin being the most recognizable signs. Over time, the dry and scaly skin can thicken and turn into a yellow-brown color around the neck, lower abdomen, underarms, groin, and the back of the knees. Other symptoms will also start to appear, including:
- Muscle stiffness
- Intellectual disability
- Speech difficulty
- Short stature
- Spine abnormalities
- Smaller head and brain
- Glistening white dots in the retina
- Widely spaced eyes and/or teeth
- Uncontrollable eye movements
How Do You Get Sjogren-Larsson Syndrome?
SLS is a result of a genetic mutation of the ALDH3A2 gene that is inherited through an autosomal recessive pattern (i.e. both parents much be carriers and pass on the genetic mutation to their child). The ALDH3A2 gene is responsible for the production of the enzyme FADH which helps to break down fats and convert them into energy. The genetic mutation disrupts this process, resulting in a buildup of fats.
How is Sjogren-Larsson Syndrome Diagnosed?
SLS can be diagnosed in two ways. The first is through blood testing to determine if FADH activity is normal. The second is through genetic testing to check for the ALDH3A2 mutation.
Is There a Treatment?
While there is currently no cure for SLS, symptoms can be alleviated through various medications and therapies. Individuals who suffer from this disease can expect a life expectancy of anywhere from 15 to 26 years.
Foundation for Ichthyosis and Related Skin Types (FIRST)
Alex The Leukodystrophy Charity (Alex TLC)
United Leukodystrophy Foundation
Genetic and Rare Diseases Information Center (GARD)