Which are the symptoms of 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), spasticity (muscle stiffness), and intellectual disability. The syndrome is caused by mutations in the ALDH3A2 gene, which is responsible for producing an enzyme called fatty aldehyde dehydrogenase.

Ichthyosis: One of the hallmark symptoms of SLS is ichthyosis, a group of skin disorders characterized by dry, scaly, and thickened skin. The skin may appear rough, flaky, and have a fish-like scale appearance. This condition is usually present at birth or develops within the first year of life. The severity of ichthyosis can vary from mild to severe, and it often affects the face, trunk, and extremities.

Spasticity: Another key symptom of SLS is spasticity, which refers to increased muscle tone and stiffness. This can lead to difficulties in movement and coordination. Individuals with SLS may experience muscle tightness, muscle spasms, and contractures (permanent shortening of muscles or tendons). Spasticity can affect both the upper and lower limbs, making it challenging to perform daily activities.

Intellectual disability: Intellectual disability is a common feature of Sjögren-Larsson Syndrome. It is typically present from early childhood and can range from mild to severe. Individuals with SLS may have learning difficulties, delayed speech and language development, and impaired cognitive abilities. The intellectual disability associated with SLS can impact various aspects of a person's life, including education, employment, and social interactions.

Additional symptoms and features of Sjögren-Larsson Syndrome may include:

• Retinal abnormalities: Some individuals with SLS may have retinal dystrophy, which can lead to vision problems and impaired night vision.


• Seizures: Epileptic seizures can occur in a subset of individuals with SLS.


• Speech difficulties: Impaired articulation, dysarthria (difficulty in controlling the muscles used for speech), and expressive language delays are common in SLS.


• Delayed motor development: Children with SLS may experience delays in reaching motor milestones such as sitting, crawling, and walking.


• Short stature: Some individuals with SLS may have below-average height.


• Joint contractures: In addition to muscle contractures, joint contractures can occur, leading to limited joint mobility.


• Behavioral problems: Individuals with SLS may exhibit behavioral issues such as hyperactivity, attention deficits, and impulsivity.

It's important to note that the severity and combination of symptoms can vary among individuals with Sjögren-Larsson Syndrome. While there is currently no cure for SLS, management focuses on addressing the specific symptoms and providing supportive care. A multidisciplinary approach involving dermatologists, neurologists, ophthalmologists, and other specialists is often necessary to provide comprehensive care for individuals with SLS.