Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease

Arch Dermatol. 2005 Jun;141(6):798-800. doi: 10.1001/archderm.141.6.798.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • Adult
  • Age Factors
  • Biopsy, Needle
  • Esterases / genetics*
  • Follow-Up Studies
  • Humans
  • Ichthyosis, Lamellar / diagnosis
  • Ichthyosis, Lamellar / genetics*
  • Ichthyosis, Lamellar / pathology
  • Immunohistochemistry
  • Lipase / genetics*
  • Lipid Metabolism, Inborn Errors / pathology*
  • Male
  • Mutation*
  • Pedigree
  • Severity of Illness Index
  • Syndrome

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Esterases
  • Lipase