From the Research
Sjögren-Larsson syndrome should be managed with a multidisciplinary approach, including the use of acitretin at a maintenance dose of 0.25 mg/kg/day to decrease the severity of ichthyosis and improve quality of life, as evidenced by a study published in 2018 1. The condition is a rare genetic disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability, caused by mutations in the ALDH3A2 gene, leading to a deficiency of fatty aldehyde dehydrogenase enzyme 2. Symptoms typically appear in infancy with dry, scaly skin and developmental delays, and as the condition progresses, affected individuals develop spasticity, glistening white dots in the retina, and speech difficulties 3. Key features of the condition include:
- Ichthyosis, which can be treated with moisturizers and keratolytic agents
- Spastic diplegia or tetraplegia, which requires physical therapy
- Intellectual disability, which necessitates supportive care and developmental interventions
- Glistening white dots in the retina, which are a pathognomonic feature of the condition 2 Genetic counseling is crucial for affected families, as the condition follows an autosomal recessive inheritance pattern, meaning both parents must carry the mutated gene for a child to be affected 4. Early intervention with a multidisciplinary approach, including dermatologists, neurologists, ophthalmologists, and developmental specialists, provides the best outcomes for patients with this lifelong condition 5. The use of acitretin has been shown to be effective in reducing the severity of ichthyosis and improving quality of life in patients with Sjögren-Larsson syndrome, making it a valuable treatment option for this condition 1.