Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Sjogren-Larsson syndrome


Other Names for this Disease
  • FADH deficiency
  • FALDH deficiency
  • FAO deficiency
  • Fatty aldehyde dehydrogenase deficiency
  • Ichthyosis, spastic neurologic disorder, and oligophrenia
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview



What is Sjogren-Larsson syndrome?

What are the signs and symptoms of Sjogren-Larsson syndrome (SLS)?

What causes Sjogren-Larsson syndrome (SLS)?

How is Sjogren-Larsson syndrome (SLS) diagnosed?

How might Sjogren-Larsson syndrome (SLS) be treated?


What is Sjogren-Larsson syndrome?

Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), mental retardation, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.[1][2]
Last updated: 9/21/2012

What are the signs and symptoms of Sjogren-Larsson syndrome (SLS)?

The signs and symptoms of SLS typically occur within the first two years of life. A primary feature of SLS is dry, scaly skin, which is called ichthyosis. In addition to ichthyosis, people can develop some or all of the following symptoms [1][2]:

  • Developmental delay
  • Mental retardation
  • Speech difficulties
  • Seizures
  • Spastic diplegia/tetraplegia paralysis (diplegia is paralysis of both legs; tetraplegia is paralysis of all four limbs)
  • Spasticity in the legs: leg spasms, which can impair motor abilities and waking
  • Glistening white dotes in the retina of the eye
  • Pruritis (itching)
  • Preterm birth
Last updated: 9/21/2012

What causes Sjogren-Larsson syndrome (SLS)?

SLS is caused mutations in the FADH (fatty aldehyde dehydrogenase) gene, which is located on chromosome 17 on the p arm at band 11.2. The enzyme made by the FADH gene is responsible for breaking down certain molecules called medium- and long-chain fatty aldehydes. If FADH is not functioning properly, these and related molecules build up in the body, specifically the membranes of the skin and brain, leading to the symptoms associated with SLS.[1][2]
Last updated: 9/21/2012

How is Sjogren-Larsson syndrome (SLS) diagnosed?

SLS can be diagnosed by a biochemical blood test that determines if FADH activity is normal. In addition, because mutations in FADH are known to cause SLS, the gene can be sequenced in order to determine if any mutations are present. This also provides the option of genetic and prenatal testing, which can allow parents to make informed decisions about having children.[1][2]
Last updated: 9/21/2012

How might Sjogren-Larsson syndrome (SLS) be treated?

Topical application of various agents have been used to treat the ichthyosis.[2] Some clinical studies have found that a drug called zileuton can be beneficial in the treatment of SLS. In these studies, the drug successfully reduced the severity of the pruritis (itching), and improved the behavior of the treated child. While this drug does not cure SLS, it has the potential to greatly improve the quality of life of children with SLS.[1] Seizures usually respond well to anti-convulsant medications and spasticity is improved with surgery. Diets supplemented with medium-chain fatty acids have been reported to improve the skin, but the results are inconsistent.[2]

More detailed information about treatment options for SLS can be accessed through the Treatment and Medication sections of Medscape Reference.
Last updated: 9/21/2012

References
  1. Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
  2. Rizzo WB. Sjogren-Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency. Mol Genet Metab. September 22, 2006; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933507/?tool=pubmed. Accessed 9/21/2012.