Clinical and genetic characterization of Chanarin-Dorfman syndrome

Claudio Bruno, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, Marco Spada, Giovanni Li Volti, Adele D'Amico, Federica Trucco, Marcello Arca, Carlo Casali, Corrado Angelini, Salvatore DiMauro, Carlo Minetti

Research output: Contribution to journalArticlepeer-review


We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers. All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease.

Original languageEnglish
Pages (from-to)1125-1128
Number of pages4
JournalBiochemical and Biophysical Research Communications
Issue number4
Publication statusPublished - May 16 2008


  • Chanarin-Dorfman syndrome
  • Ichthyosis
  • Jordans' bodies
  • Myopathy
  • Neutral lipid storage disease

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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