Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome
- PMID: 28543186
- DOI: 10.1111/cge.13058
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome
Abstract
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures. To date, correlations between genotype and phenotype have proven difficult to document due to low disease incidence and high heterogenetic variability in mutations. This review summarizes the clinical characteristics of SLS that have been found to contribute to the prognosis thereof, as well as recent updates from genetic and brain imaging studies. In addition, the differential diagnoses of SLS are briefly illustrated, covering cerebral palsy and other genetic or neurocutaneous syndromes mimicking the syndrome.
Keywords: FALDH deficiency; genetic variations; ichthyosis; intellectual disability; macular dystrophy; neurocutaneous disease; spastic diplegia.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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