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Journal Compilation © 2020 Acta Dermato-Venereologica. doi: 10.2340/00015555-3522 Neonatal ichthyosis-sclerosing cholangitis syndrome (NISCH syndrome, MIM#607626) is a rare autosomal recessive syndromic ichthyosis characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis. It is caused by bi-allelic and loss of function mutations in the CLDN1 gene, localized on chromosome 3q27–q28, encoding for claudin-1 (1, 2). Claudin-1 is a 211-amino-acid-long integral membrane protein of tight junction strands, which in humans, is notably expressed in the liver and skin. Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The syndrome was first described as NISCH syndrome and is now called ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC).

Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia