Sjogren Larsson syndrome

Sj gren-Larsson Syndrome Sj gren-Larsson Syndrome (SLS) is a rare, inherited disorder characterized by a combination of skin, neurological, and eye abnormalities. It is an autosomal recessive condition caused by mutations in the ALDH3A2 gene, which encodes the enzyme fatty aldehyde dehydrogenase (FALDH). This enzyme is crucial for the metabolism of fatty aldehydes and alcohols.

Clinical Features

Sj gren-Larsson Syndrome is primarily characterized by the following clinical features:

• Ichthyosis: A form of dry, scaly skin that is present from birth or develops in early infancy. The ichthyosis in SLS is often generalized and can be severe.
• Neurological Symptoms: These include intellectual disability, spasticity, and motor dysfunction. Spasticity often affects the legs more than the arms, leading to difficulties in walking.
• Ocular Abnormalities: Patients often have photophobia and retinal changes, which can lead to visual impairment.

Genetics

Sj gren-Larsson Syndrome is caused by mutations in the ALDH3A2 gene located on chromosome 17p11.2. This gene encodes the enzyme fatty aldehyde dehydrogenase, which is involved in the oxidation of fatty aldehydes to fatty acids. The deficiency of this enzyme leads to the accumulation of fatty aldehydes and alcohols, which are toxic to cells.

Diagnosis

Diagnosis of SLS is based on clinical findings and can be confirmed by genetic testing to identify mutations in the ALDH3A2 gene. Biochemical assays can also demonstrate deficient FALDH activity in cultured fibroblasts or leukocytes.

Management

There is currently no cure for Sj gren-Larsson Syndrome, and treatment is symptomatic and supportive:

• Skin Care: Emollients and keratolytic agents can help manage ichthyosis.
• Neurological Management: Physical therapy and medications such as baclofen or botulinum toxin may be used to manage spasticity.
• Ophthalmologic Care: Regular eye examinations and protective eyewear can help manage ocular symptoms.

Prognosis

The prognosis for individuals with SLS varies. While the condition is lifelong, supportive treatments can improve quality of life. Intellectual disability and motor impairments are typically stable but can affect daily functioning.

Research

Ongoing research is focused on understanding the pathophysiology of SLS and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.

See Also

• Ichthyosis
• Spasticity
• Autosomal Recessive Disorders
• Sj gren, T., & Larsson, T. (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders." Acta Psychiatrica et Neurologica Scandinavica.
• Rizzo, W. B. (2011). "Sj gren-Larsson Syndrome: Molecular genetics and biochemical pathogenesis." Advances in Genetics.

NIH genetic and rare disease info

• NIH info on Sjogren Larsson syndrome

Sjogren Larsson syndrome is a rare disease.