Sjogren-Larsson syndrome

What is Sjogren-Larsson Syndrome?

Sjogren-Larsson syndrome (SLS) is an inherited condition with symptoms including dry, thickened, scaling skin (ichthyosis), spastic movement in the legs, and intellectual and developmental disabilities.

People with SLS cannot properly break down molecules called fatty aldehydes. The accumulation of these and related molecules results in the symptoms of SLS.

Children with SLS are often born several weeks prematurely and the majority either have ichthyosis at birth or develop it in the first few months of life. Most of the remainder will develop this symptom within the first year of life. People with SLS will have thicker than normal skin that frequently itches. Scales on the skin can range in form from fine particles to large plate-like scales and they may be dark in color. Often the facial skin is unaffected.

Within the first two years, the nervous system often shows signs of the disease. These signs may include developmental delay, speech abnormality, and seizures. Many people with the disease have mild to moderate intellectual disability. In terms of mental development, people with SLS do not worsen over time and can learn new skills.

Many people with SLS have spastic movement in their legs and the majority never learn to walk. They may also lose mobility in the joints of their lower body, contributing to motor problems. Spastic movement can also affect the arms. Overall, people with SLS tend to be shorter than average.

Some people with SLS are extremely sensitive to bright light and many have glistening white dots in the retina of the eye.

How common is Sjogren-Larsson Syndrome?

The disease is most common in Sweden, where an estimated 0.4 out of 100,000 are affected by it. In northern Sweden, 1% of the population is a carrier of the disease.

Cases of SLS have been seen in people of all ethnicities. It is rare, though its exact frequency is unknown.

How is Sjogren-Larsson Syndrome treated?

There is no treatment for the root cause of SLS, but its symptoms can be addressed.

Treatments for the skin problems caused by ichthyosis include daily baths, moisturizing creams, and creams or lotions with active ingredients that slough off dead skin cells. Drugs called retinoids may improve skin condition, although they are not often used in children. Recent research has shown that a drug called zileuton can help reduce skin itching associated with SLS, but it is not yet FDA approved for this purpose. Some studies suggest that eating a diet with limited fats and taking medium-chain triglyceride supplements can help ichthyosis, but the evidence so far has been mixed.

If a person with SLS has seizures, these usually can be controlled with anti-seizure medication.

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 be useful in helping people with SLS to walk.

What is the prognosis for a person with Sjogren-Larsson Syndrome?

With good medical care, most people with SLS survive into adulthood. Their life expectancy may be related to the degree of neurological symptoms.