Neonatal ichthyosis–sclerosing cholangitis syndrome

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]

Neonatal ichthyosis–sclerosing cholangitis syndrome
Other namesNISCH syndrome
SpecialtyDermatology

See also

References
  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-11.
  3. "OMIM Entry - # 607626 - ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC". omim.org. Retrieved 2022-06-11.


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