Neonatal ichthyosis–sclerosing cholangitis syndrome explained

Neonatal ichthyosis–sclerosing cholangitis syndrome
Synonyms:	NISCH syndrome
Field:	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.^[1] Only 5 cases from 3 families worldwide have been described in medical literature.^[2] It caused by mutations in the Claudin 1 gene.^[3]

See also

• Ichthyosis prematurity syndrome
• List of cutaneous conditions

Notes and References

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