Ichthyosis and ARSA deficiency: An unusual clinical presentation

Metachromatic leukodystrophy (MLD) is a rare childhood disease arises by arylsulfatase A (ARSA) deficiency. Storage of sulfatides causes dysmyelination in the central nervous system resulting clinically neurodegenerative process. Ichthyosis can be seen in multiple sulfatase deficiency (MSD) and steroid sulfatase deficiency but ichthyosis with arylsulfatase deficiency is not defined before. Herein we present an individual diagnosed late infantile metachromatic leukodystrophy with ichthyosis and ARSA gene analysis revealed homozygote mutation (c.619G>C). To our knowledge ichthysosis with ARSA deficiency was not reported previously.