A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair.

Cai, Liangqi; Lin, Zhimiao; Wang, Huijun

Https://doi.org/10.1093/ced/llad071 Dear Editor, ILVASC (ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis; OMIM 607626), previously known as NISCH (neonatal ichthyosis-sclerosing cholangitis) syndrome, is an autosomal recessive syndromic ichthyosis. In 2004, biallelic I CLDN1 i mutations leading to a total absence of the claudin-1 protein were identified to be responsible for ILVASC syndrome.[2] Thereafter, five additional I CLDN1 i variants were reported, among which four were truncating mutations. (a, b) Generalized ichthyosis with fine scaling on the patient's abdomen and lower leg. (c) The patient shows brownish scaling on the scalp, with sparse and curly scalp hair.

ICHTHYOSIS; ALOPECIA areata; HAIR; INTRAHEPATIC bile ducts; INFORMED consent (Medical law); FRAMESHIFT mutation

Clinical & Experimental Dermatology, 2023, Vol 48, Issue 7, p794

0307-6938

Academic Journal

10.1093/ced/llad071