DORFMAN - CHANARIN SYNDROME – MUTATION IN ABHD 5 AND ABCA 12 – CASE REPORT

Chanarin-Dorfman Syndrome (CDS) is an extremely rare form of non-bullous congenital ichthyosiform erythroderma, with only very few cases reported worldwide. This condition involves decreased lipolysis due to a mutation in the ABHD5 gene, causing accumulation of lipid droplets in various organs. Here we report a two-year-old boy with ichthyosis from six months of age and progressive abdominal distension. Ultrasound revealed hepatomegaly with elevated liver enzymes, skin biopsy revealed lipid vacuoles in the basal layer. Genetic testing confirmed a homozygous missense mutation in the Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase gene and an additional mutation in the ATP-binding cassette, subfamily A, member 12 (ABCA12) gene, worsening the ichthyosis. In reviewing the literature to our knowledge, the combined mutation with ABHD 5 and ABCA12 has not been reported so far in a case of Chanarin Dorfman syndrome, hence we are reporting for its rarity and the limited knowledge about CDS.