Medicine: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"[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
- Ichthyosis prematurity syndrome
- List of cutaneous conditions
References
- ↑ 1.0 1.1 1.2 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" (in en). https://rarediseases.info.nih.gov/diseases/10583/ichthyosis-leukocyte-vacuoles-alopecia-and-sclerosing-cholangitis.
- ↑ "OMIM Entry - # 607626 - ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC" (in en-us). https://omim.org/entry/607626.
External links
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