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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" 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.

See also

• Ichthyosis prematurity syndrome
• List of cutaneous conditions

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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• Syndromes affecting the skin
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