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

Luciana Losito, Leonarda Gennaro, Marta de Rinaldis, Marilena Cacudi, Antonio Trabacca

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)205-208
Number of pages4
JournalActa Neurologica Belgica
Volume112
Issue number2
DOIs
Publication statusPublished - 2012

Keywords

  • Ichthyosis
  • Neurocutaneous disorder
  • Sjögren-Larsson syndrome

ASJC Scopus subject areas

  • Clinical Neurology

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