SjögrenLarsson

Sjögren-Larsson syndrome (SLS) is a rare, inherited genetic disorder characterized by a triad of symptoms: congenital ichthyosiform erythroderma (a severe skin condition), mental retardation, and spastic diplegia (a form of cerebral palsy affecting the legs). The syndrome is named after the Swedish dermatologists Ragnar Sjögren and Lars Larsson, who first described it in 1957.

The condition is caused by mutations in the *FADS2* gene, which encodes fatty acid desaturase 2, an enzyme involved in the metabolism of fatty acids. These mutations disrupt the production of essential lipids, leading to the clinical manifestations of the syndrome. The inheritance pattern is autosomal recessive, meaning an individual must inherit two copies of the mutated gene—one from each parent—to develop the disorder.

Symptoms typically appear within the first few months of life. The skin condition often presents as thick, scaly patches that may cover the entire body, resembling severe eczema or psoriasis. Over time, the skin may become less inflamed but remain dry and scaly. Neurological symptoms, including developmental delays, intellectual disability, and spasticity in the legs, usually become apparent in early childhood. Some individuals may also experience seizures, speech difficulties, or behavioral challenges.

Diagnosis is often confirmed through genetic testing to identify mutations in the *FADS2* gene. There is currently no cure for Sjögren-Larsson syndrome, but management focuses on symptom relief. Topical treatments, such as emollients and keratolytics, help improve skin condition, while physical therapy and assistive devices may aid mobility. Speech therapy and educational support can address developmental and cognitive challenges.

The prognosis varies depending on the severity of symptoms, but many individuals with SLS require lifelong care. Research into potential therapies, including gene therapy and enzyme replacement, is ongoing. Patient support groups and multidisciplinary care teams play a crucial role in improving quality of life for those affected by the syndrome.