What is Sjögren-Larsson Syndrome

Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by a triad of symptoms including ichthyosis (a skin condition causing dry, scaly skin), intellectual disability, and spasticity (stiffness and tightness of muscles).

SLS is caused by mutations in the ALDH3A2 gene, which is responsible for producing an enzyme called fatty aldehyde dehydrogenase. The deficiency of this enzyme leads to the accumulation of fatty aldehydes in the body, resulting in the characteristic symptoms of the syndrome.

Individuals with SLS typically develop dry, thickened skin shortly after birth. The severity of skin involvement can vary, ranging from mild scaling to more severe forms of ichthyosis. Intellectual disability is another prominent feature, with affected individuals experiencing learning difficulties and delayed development. Spasticity affects the muscles, leading to stiffness, muscle weakness, and difficulty with movement.

While there is currently no cure for SLS, treatment focuses on managing the symptoms. This may involve the use of moisturizers and emollients to alleviate skin dryness, physical therapy to improve mobility, and educational interventions to support intellectual development.