Sjogren-Larsson Syndrome

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Sjogren-Larsson Syndrome (SLS) is a rare inherited disorder characterized by the triad of ichthyosis (scaly skin), spastic diplegia or tetraplegia (muscle stiffness affecting the legs and sometimes arms), and intellectual disability. First described by Swedish physicians Torsten Sjogren and Tage Larsson in 1957, the condition results from a defect in fatty alcohol metabolism.

The skin abnormality, ichthyosis, is typically present at birth or develops within the first year of life. The skin appears dry, thick, and scaly, with a yellowish-brown color, particularly affecting the trunk, neck, and limbs. Unlike some other forms of ichthyosis, the face is usually spared or mildly affected. Pruritus (itching) is common and can be severe, significantly impacting quality of life.

Neurological features become apparent during infancy or early childhood. Spasticity usually affects the legs more than the arms, leading to difficulty walking. Most affected individuals require mobility aids or wheelchairs. Intellectual disability is typically mild to moderate. A distinctive finding is the presence of "glistening dots" in the retina, which can be seen on eye examination and are considered pathognomonic for the condition.

Sjogren-Larsson Syndrome is caused by mutations in the ALDH3A2 gene, which encodes fatty aldehyde dehydrogenase. When this enzyme is deficient, fatty aldehydes accumulate in cells, damaging the skin and nervous system. The condition is inherited in an autosomal recessive pattern and is particularly common in northern Sweden due to a founder effect. Treatment focuses on managing the skin condition and providing supportive care for neurological symptoms.

NutraHacker examines the following gene related to Sjogren-Larsson Syndrome:

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