Chanarin-Dorfman Syndrome
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📋Overview
Chanarin-Dorfman Syndrome is a neutral lipid storage disease caused by mutations in the ABHD5 gene. These genetic changes impair the breakdown of triglycerides, leading to an abnormal buildup of lipid droplets within cells throughout the body.
The disorder is primarily identified by congenital ichthyosis, which presents as dry, scaly skin, and may also involve the liver, muscles, and central nervous system. Clinical observations often reflect systemic involvement that can affect neurological pathways and organ function.
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