Sjogren-Larsson syndrome

What Is Sjogren-Larsson Syndrome?

Sjogren-Larsson Syndrome (SLS), caused by mutations in the ALDH3A2 gene, is an inherited disorder caused by an inability to break down fatty alcohol molecules in the body. The buildup of these fatty alcohols leads to symptoms affecting the skin, skeleton, neurological system, and eyes.

Children with SLS are often born several weeks prematurely, and the majority will develop dry, scaling skin (ichthyosis) in the first year of life. This abnormally thick skin has a dark, scaly appearance and can be itchy but the skin of the face usually remains normal. Some individuals with SLS will also have curved spines and will have shorter than average stature.

Neurological symptoms typically begin appearing in the first two years of life in children with SLS. These symptoms may include developmental delay, speech issues, and seizures. Most individuals with SLS will have intellectual disability, which can be severe, with an IQ of below 50. Infants with SLS tend to take longer to learn how to crawl and walk, due to stiffness (spasticity) of the leg and arm muscles. Some individuals with SLS will never be able to walk. Individuals with SLS may have glistening white dots in the back of their eye (retina) that can be seen during an eye exam. SLS may also affect vision and cause sensitivity to bright lights (photophobia).

How Common Is Sjogren-Larsson Syndrome?

SLS is a rare genetic condition that affects individuals of various ethnic backgrounds. SLS is most common in Sweden, where the estimated prevalence is 1 in 250,000 individuals. In northern Sweden, the prevalence may be higher.

How Is Sjogren-Larsson Syndrome Treated?

There is no treatment for the root cause of SLS. The current treatments are aimed at alleviating the disease's symptoms.

Therapy for the scaly and tough skin include daily baths, moisturizing creams, and creams or lotions with active ingredients that scrub off dead skin cells. Drugs called retinoids may improve skin condition for adults with SLS. There are currently research trials showing that a drug called zileuton may help reduce skin itching associated with SLS, but it is not yet approved by the FDA for treating SLS. Some studies suggest that a modified diet concerning fat intake with supplementation may help with skin symptoms in some patients.

While physical therapy may help build or regain motor skills, including walking, surgery may help reduce the spastic movements of the leg. Mechanical braces or other aids may also be useful in helping individuals with SLS to walk. Anti-seizure medication can be given to help control seizures. Learning specialists may help individuals with SLS reach their learning potential.

What Is the Prognosis for an Individual with Sjogren-Larsson Syndrome?

Life expectancy is usually reduced for individuals with SLS which may be related to the neurological impact of the condition.