| Neonatal ichthyosis–sclerosing cholangitis syndrome | |
|---|---|
| Other names | NISCH syndrome |
 | |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | Dermatology |
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]
See also
References
- ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-11.
- ^ "OMIM Entry - # 607626 - ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC". omim.org. Retrieved 2022-06-11.
External links
This page was last edited on 6 May 2024, at 23:48