Neonatal ichthyosis–sclerosing cholangitis syndrome

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.

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