๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal ichthyosis-sclerosing cholangitis syndrome
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is characterized by neonatal ichthyosis typically associated with jaundice due to sclerosing cholangitis of variable severity. Other features include hypotrichosis of the scalp with frontal scarring alopecia, and leukocyte vacuoles.1โ3 Autosomal recessive mutations in CLDN1 encoding claudin-1 have been detected.4 Claudin-1 is a major component of the tight junctions in the epidermis, cholangiocytes, and hepatocytes.5 Dysfunctions of claudin 1 account for permeability between epithelial cells resulting in hypercholanemia or epidermal barrier defect.6