What is Sjögren-Larsson syndrome?
Sjögren-Larsson syndrome is a genetic condition that is characterized by ichthyosis, eye issues, and neurological problems. It affects children, as symptoms tend to appear in early childhood. They often do not progress with age.
The prevalence of this condition is only known in Sweden, where it is one of every 250,000 people.
What are the symptoms of Sjögren-Larsson syndrome?
Those affected are often born prematurely with red skin. Throughout infancy the skin will turn to a more brown or yellow tone and become scaly and dry. This often comes with itchiness. While the face is often unaffected, the rest of the body will have this type of skin. It is the most severe in the extremities, torso, and nape of the neck.
Other symptoms include:
- Intellectual disability
- Delayed speech paired with speech difficulties
- Seizures (in about 40% of affected individuals)
- Delayed development of motor skills
- Muscle stiffness
- Retinal crystals
What causes Sjögren-Larsson syndrome?
A mutated ALDH3A2 gene, which is passed down in an autosomal recessive pattern, is responsible for this condition. It is needed to produce the fatty aldehyde dehydrogenase (FALDH) enzyme. This enzyme plays a role in breaking down fats, so when it is mutated there is a buildup of fat in the cells. This results in issues with water balance, which leads to the scaly and dry skin. Doctors also believe that this process affects myelin in the brain.
How is Sjögren-Larsson syndrome diagnosed?
This condition is often noticed at birth, as babies are born prematurely with red skin. As symptoms appear by age three, a diagnosis can be confirmed around then. Genetic testing is often used as well.
What are the treatments for Sjögren-Larsson syndrome?
There is no cure; treatment is symptomatic and often requires a team of specialists. They recommend a diet that is low in long-chain fats, physical therapy, special education services, and speech therapy.