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.
This Genodermatoses article is a stub.
You can help Wikipedia by expanding it.