Sjogren-Larsson syndrome

Common Name(s)

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sjogren-Larsson syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sjogren-Larsson syndrome" returned 33 free, full-text research articles on human participants. First 3 results:

Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.
 

Author(s): Takuya Takeichi, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama

Journal: Acta Derm. Venereol.. 2013 Sep;93(5):579-80.

 

Last Updated: 4 Sep 2013

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Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy.
 

Author(s): Sushruta Kathuria, Shikha Arora, V Ramesh

Journal:

 

Sjögren-Larsson syndrome (SLS) is a congenital ichthyotic disorder with spasticity. We describe a case of a 5-year-old boy with SLS diagnosed clinically based on congenital ichythosis, quadriplegia, and mental retardation. The child responded well to emollients and antihistamines. ...

Last Updated: 3 Oct 2012

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The Sjögren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway.
 

Author(s): Kanae Nakahara, Aya Ohkuni, Takuya Kitamura, Kensuke Abe, Tatsuro Naganuma, Yusuke Ohno, Raphael A Zoeller, Akio Kihara

Journal: Mol. Cell. 2012 May;46(4):461-71.

 

Sphingosine 1-phosphate (S1P) functions not only as a bioactive lipid molecule, but also as an important intermediate of the sole sphingolipid-to-glycerolipid metabolic pathway. However, the precise reactions and the enzymes involved in this pathway remain unresolved. We report here ...

Last Updated: 28 May 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sjogren-Larsson syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
 

Author(s): William B Rizzo

Journal: Mol. Genet. Metab.. 2007 Jan;90(1):1-9.

 

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. Affected patients display ichthyosis, mental retardation ...

Last Updated: 12 Dec 2006

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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
 

Author(s): M A Willemsen, L IJlst, P M Steijlen, J J Rotteveel, J G de Jong, P H van Domburg, E Mayatepek, F J Gabreëls, R J Wanders

Journal: Brain. 2001 Jul;124(Pt 7):1426-37.

 

Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). We report the clinical characteristics and the results of molecular studies in 19 SLS patients. Patients ...

Last Updated: 15 Jun 2001

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MR of the brain in Sjögren-Larsson syndrome.
 

Author(s): F Van Mieghem, J W Van Goethem, P M Parizel, L van den Hauwe, P Cras, J De Meirleire, A M De Schepper

Journal: AJNR Am J Neuroradiol. 1997 Sep;18(8):1561-3.

 

Cerebral MR was performed in three patients with Sjögren-Larsson syndrome. In each case, a 1.5-T system was used, and the patient was under general anesthesia. The MR findings included confluent hyperintense white matter lesions in the periventricular and deep white matter of the ...

Last Updated: 24 Oct 1997

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
 

Status: Recruiting

Condition Summary: Sjogren-Larsson Syndrome (SLS)

 

Last Updated: 29 Oct 2013

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