Sjogren-Larsson syndrome

Sjogren-Larsson syndrome is a neurocutaneous disorder caused by an inborn error of lipid metabolism. People with this condition have changes in both the skin and the nervous system. It is most noted for the presence of congenital ichthyosis, a condition that causes scaly and dry skin, as well as challenges in movement and learning. The condition is recognized by a combination of symptoms including skin abnormalities and difficulties with motor skills and intellectual function. The disorder is rare and has been studied in detail through genetic research. Information from trusted sources such as OMIM and Orphanet helps provide a better understanding of this syndrome.

Common symptoms of Sjogren-Larsson syndrome include congenital ichthyosis, which is a persistent scaling of the skin, an intellectual deficit affecting learning and thinking skills, and spasticity, which can lead to increased muscle stiffness and movement difficulties.

Sjogren-Larsson syndrome is caused by an inborn error of lipid metabolism. Changes in the ALDH3A2 gene are known to affect the way the body processes fats. This genetic change disrupts normal metabolism, which contributes to the symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.