Ichthyosis and neutral lipid storage disease.
A boy with a lipid storage disease characterized by lamellar ichthyosis, cataracts, hepatosplenomegaly, and leukocyte vacuoles has been identified in a Sicilian family. This patient shows all the characteristics of ichthyosis and neutral lipid storage disease (Chanarin-Dorfman syndrome). Family data confirm an autosomal recessive inheritance; the heterozygotes may be detected by the presence of vacuoles in circulating eosinophils.
Musumeci
S
S
Department of Pediatrics, University of Catania, Italy.
D'Agata
A
A
Romano
C
C
Patané
R
R
Cutrona
D
D
D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D007962:Leukocytes / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D010375:Pedigree; D014617:Vacuoles / Q000473:pathology