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.^[1]

Neonatal ichthyosis–sclerosing cholangitis syndrome
Other names	NISCH syndrome
This condition is inherited in an autosomal recessive manner.
Specialty	Dermatology

See also

• Ichthyosis prematurity syndrome
• List of cutaneous conditions