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Beneficial effect of acitretin in Chanarin-Dorfman syndrome

S Israeli1, Y Pessach, O Sarig

  • 1Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Clinical and Experimental Dermatology
|October 11, 2011
PubMed

Insights

Chanarin-Dorfman syndrome (CDS), a lipid metabolism disorder, is caused by ABHD5 gene mutations. Acitretin treatment showed positive clinical and lab results in a child with ichthyosis and hepatomegaly.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Dermatology

Background:

  • Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder.
  • It is characterized by congenital ichthyosis and visceral complications from neutral lipid accumulation.
  • Mutations in the ABHD5 gene are the known cause of CDS.

Observation:

  • A pediatric case presented with ichthyosis and hepatomegaly, indicative of CDS.
  • Genetic analysis revealed an intronic mutation (c.960 + 5G>A) causing exon 6 skipping.
  • The patient exhibited abnormal liver function tests.

Findings:

  • The identified ABHD5 mutation led to exon 6 skipping, confirming the genetic basis of CDS in this patient.
  • Acitretin therapy was initiated due to abnormal liver function tests.
  • The treatment yielded satisfactory clinical and laboratory improvements.

Implications:

  • This case highlights the potential efficacy of acitretin in managing Chanarin-Dorfman syndrome.
  • Acitretin treatment can be beneficial even when liver function is compromised.
  • Further research into acitretin's role in CDS management is warranted.

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