| Neonatal ichthyosis–sclerosing cholangitis syndrome | |
|---|---|
| Other names | NISCH syndrome |
| 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