Chanarin Dorfman syndrome: a case report with novel nonsense mutation

• Chanarin Dorfman Syndrome (CDS) is an autosomal recessive rare neutral lipid metabolism disorder
• It should be kept as a differential diagnosis in any patient with congenital ichthyosis with extra cutaneous signs.
• Diagnosis depends on a very simple peripheral blood smear test for Jordan anomaly
• Specific DNA based diagnosis is helpful in providing prenatal diagnosis in subsequent pregnancies

Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ichthyosiform erythroderma and involvement of liver, muscle, and central nervous system. Demonstration of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma leads to the diagnosis. We report a novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.