title: Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement.
abstract: OBJECTIVE
  Dorfman-Chanarin syndrome is a very rare condition determined by an autosomal recessive inherited disorder of neutral lipid metabolism. The syndrome is defined by the association of ichthyosiform nonbullous erythroderma, vacuoles in the leukocytes and variable involvement of liver, muscle and central nervous system. Only 19 cases have been described worldwide.
  
  
  METHODS
  We studied a 16-year-old patient with congenital ichthyosis, liver and spleen enlargement and abnormal gamma-glutamyltransferase. Liver biopsy, skin biopsy and blood smear showed abnormal intracellular neutral lipid storage.
  
  
  CONCLUSIONS
  On the basis of clinical and histological findings, the patient was diagnosed as having Dorfman-Chanarin syndrome. This is the fourth reported Italian case, with a prominent skin and hepatic involvement. Liver biopsy, performed in the first instance, was of great importance in reaching a diagnosis.
authors.affiliation: Department of Internal Medicine, Ospedale S. Corona, Pietra Ligure, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Mela
authors.forename: A
authors.initials: A
authors.lastname: Artom
authors.forename: R
authors.initials: R
authors.lastname: Goretti
authors.forename: G
authors.initials: G
authors.lastname: Varagona
authors.forename: M
authors.initials: M
authors.lastname: Riolfo
authors.forename: S
authors.initials: S
authors.lastname: Ardoino
authors.forename: G
authors.initials: G
authors.lastname: Sanguineti
authors.forename: A
authors.initials: A
authors.lastname: Vitali
authors.forename: S
authors.initials: S
authors.lastname: Ricciardi
mesh_terms: D000293:Adolescent; D001707:Biopsy, Needle; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000473:pathology*; D007558:Italy; D007962:Leukocytes / Q000648:ultrastructure; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008099:Liver / Q000473:pathology*; D008297:Male; D013154:Spleen / Q000473:pathology*; D013577:Syndrome; D014617:Vacuoles / Q000473:pathology