Chanarin Dorfman syndrome is a hereditary disorder of lipid metabolism almost always accompanied by dry, scaly skin (ichthyosis). Myopathy (degeneration of the muscles) and fat deposits appearing in the white blood cells also are commonly seen in patients with Chanarin Dorfman syndrome.
This is a highly uncommon autosomal recessive genetic condition that impacts fat metabolism. The disorder is present from birth and is known for causing ichthyosis, which manifests as thickened, scaly skin. Additionally, it leads to myopathy, a muscle degeneration, and in some cases, it may also result in visual and auditory defects. Blood tests reveal atypical white blood cells that contain tiny spaces filled with fat.