๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Dorfman-Chanarin syndrome
Dorfman-Chanarin syndrome
Dorfman-Chanarin syndrome (neutral lipid storage disease with ichthyosis) is a triglyceride storage disease with impaired long-chain fatty acid oxidation resulting in cataracts, hepatosplenomegaly, neurosensorial deafness, myopathy or developmental delay.1 Affected neonates present as collodion babies or are erythrodermic with scaling. Later the ichthyosis resembles CIE with ectropion, flexural and neck lichenification, and palmoplantar hyperkeratosis. Pruritus and hypohidrosis are common.2
Ultrastructurally, there are lamellar inclusions in the prickle and granular cell layers. Lipid inclusions are not a feature.12