Neonatal ichthyosis–sclerosing cholangitis syndrome
Medical condition
From Wikipedia, the free encyclopedia
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]
Other namesNISCH syndrome
| Neonatal ichthyosis–sclerosing cholangitis syndrome | |
|---|---|
| Other names | NISCH syndrome |
| |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | Dermatology |