Neonatal ichthyosis–sclerosing cholangitis syndrome
Introduction '''Neonatal ichthyosis–sclerosing cholangitis syndrome''' (also known as "'''NISCH syndrome'''" and "'''ichthyosis–sclerosing cholangitis syndrome'''") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene.
See also * Ichthyosis prematurity syndrome* List of cutaneous conditions
References
External links