Sjogren Larsson Syndrome (SLS) is a rare, hereditary neurocutaneous disorder that affects the development of the skin, eyes, and central nervous system. It is typically inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated gene for a child to develop the syndrome.
The characteristic features of Sjogren Larsson Syndrome include two primary symptoms, namely ichthyosis and spasticity. Ichthyosis refers to a group of skin disorders characterized by dry, scaly skin that resembles fish scales. In SLS, this skin abnormality is present from birth and commonly affects the extremities, resulting in a thickened, rough appearance. Spasticity, on the other hand, refers to the stiffness and involuntary muscle contractions that are often observed in individuals with SLS. This can lead to difficulties in movement and coordination, as well as muscle weakness.
In addition to these main symptoms, individuals with Sjogren Larsson Syndrome may also experience various eye abnormalities, such as poor vision, nystagmus (involuntary eye movements), and strabismus (crossed or misaligned eyes). Other associated features may include intellectual disability, speech delays, seizures, and a smaller head circumference.
Currently, there is no cure for Sjogren Larsson Syndrome, and treatment typically focuses on managing the symptoms and providing supportive care. This may include the application of moisturizers and emollients to alleviate skin dryness and itchiness, the use of assistive devices or therapies to improve mobility, and the implementation of educational and developmental interventions to enhance cognitive and language skills.
In summary, Sjogren Larsson Syndrome is a rare genetic disorder characterized by dry, scaly skin (ichthyosis), muscle
