Send to

Choose Destination
See comment in PubMed Commons below
Acta Neurol Belg. 2012 Jun;112(2):205-8. doi: 10.1007/s13760-012-0035-z. Epub 2012 Feb 2.

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.

Author information

  • 1Scientific Institute I.R.C.C.S. Eugenio Medea, La Nostra Famiglia, Unit of Neurorehabilitation I (Developmental Neurology and Functional Rehabilitation), Brindisi Research Centre, Piazza A. Di Summa, 72100 Brindisi, Italy.


Sjögren-Larsson syndrome (SLS) is a rare autosomal recessively inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. It is characterized by an unusual combination of cutaneous and neurologic signs and symptoms. The authors describe two brothers of consanguineous parents with SLS, one of whom was born from a dizygotic twin pregnancy (with an apparently normal sister), and they focus on the variability of the clinical findings of the syndrome even among siblings and twins.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center