Neutral lipid storage disease with ichthyosis (NLSD)

Chanarin-Dorfman syndrome is also known as neutral lipid storage disease with ichthyosis. Clinically, it is an autosomal recessive form of non-bullous congenital ichthyosiform eryhthroderma (NCIE), demonstrating fine white scaling on an erythematous background. Babies with Chanarin-Dorfman may be born with a collodion membrane, and cases have been reported with bilateral ectropion and eclabion. Hair, nails, teeth, and mucosa are normal. In addition to NCIE, however, affected individuals have other organ involvement, the most frequent of which is hepatomegaly and liver steatosis. Muscle weakness, ataxia, neurosensory hearing loss, eye findings (subcapsular cataracts, nystagmus and strabismus), and mental retardation may also be present. Histologically, intracellular lipid droplets are found in most tissues and confirmation of the diagnosis can be made on a peripheral blood smear to evaluate the presence of these lipid vacuoles in granulocytes.

Tests Available

Forms and Documents

Test Details

ABHD5
  • Confirmation of clinical diagnosis
  • To distinguish CDS from other forms of NCIE
  • Recurrence risk calculation
  • Prenatal diagnosis for couples with known mutation(s)
  • Capillary Sequencing

Ordering

114
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

References

  1. Emre et al. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. European Journal of Medical Genetics. 2010 March; 53:141-144
  2. Schweiger et al. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab 2009 297:E289-E296
  3. Bruno et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8
  4. Akiyama et al. (2008) CGI-58 Is an {alpha}/?-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes. Am J Pathol 173:1349-1360
  5. Akiyama et al. (2003) Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Chanarin-Dorfman syndrome. J Invest Dermatol. 121:1029-1034
  6. Lefevre et al (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002-1012