Medicine:Neonatal ichthyosis–sclerosing cholangitis syndrome

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Neonatal ichthyosis–sclerosing cholangitis syndrome
Other namesNISCH syndrome
SpecialtyDermatology

Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome"[1] and "ichthyosis–sclerosing cholangitis syndrome"[1]) is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis.[2] Only 5 cases from 3 families worldwide have been described in medical literature.[3] It caused by mutations in the Claudin 1 gene.[1]

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