Nermin Mutlu BILGIC, Gupse ADALI, Burak OZTURKERI, Sezin CANBEK, Reyhan SURMELI
Hepatology Forum - 2026;7(2):171-175
Chanarin-Dorfman Syndrome (CDS) is a rare autosomal recessive lipid storage disorder characterized by systemic triglyceride accumulation in various tissues, including the muscle, skin, central nervous system, liver, and white blood cells. Lipid accumulation results from mutations in the abhydrolase domain-containing 5 (ABHD5) gene, located on the p arm of chromosome 3. This report describes two adult Turkish siblings diagnosed with CDS who exhibited clinical features such as ichthyosis and cirrhosis secondary to steatotic liver disease. Genetic analysis revealed a novel homozygous frameshift mutation in the ABHD5 gene, c.29_30del (p.Ser10CysfsTer26), a variant previously documented in only one pediatric case. This report underscores the necessity of considering CDS in the differential diagnosis of steatotic liver disease, particularly when associated with ichthyosis, and highlights its relevance in populations from the Mediterranean region where such cases may be underdiagnosed.
