ichthyosis-sclerosing cholangitis neonatal syndrome; ichthyosis with leukocyte vacuoles alopecia & sclerosing cholangitis (ILVASC)

Epidemiology

• rare

Genetics

• autosomal recessive
• associated with defects in CLDN1 are the cause of ichthyosis-sclerosing cholangitis neonatal syndrome (NISCH)

Clinical manifestations

• scalp hypotrichosis
• scarring alopecia
• vulgar type ichthyosis
• sclerosing cholangitis

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/607626