Neonatal ichthyosis–sclerosing cholangitis syndrome
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| Neonatal ichthyosis–sclerosing cholangitis syndrome | |
|---|---|
| Other names | NISCH syndrome |
| Specialty | Dermatology |
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.