Confirmation of the origin of NISCH syndrome
L Feldmeyer, M Huber, F Fellmann… - Human …, 2006 - Wiley Online Library
L Feldmeyer, M Huber, F Fellmann, JS Beckmann, E Frenk, D Hohl
Human mutation, 2006•Wiley Online LibraryNeonatal ichthyosis‐sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive
ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and
sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in
the gene coding for the tight junction protein claudin‐1. Only four patients carrying the same
mutation of the CLDN1 gene have been described until now. We report a patient presenting
with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the …
ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and
sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in
the gene coding for the tight junction protein claudin‐1. Only four patients carrying the same
mutation of the CLDN1 gene have been described until now. We report a patient presenting
with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the …
Abstract
Neonatal ichthyosis‐sclerosing cholangitis (NISCH) syndrome, a rare autosomal recessive ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis, was described for the first time in 2002. It is caused by a mutation in the gene coding for the tight junction protein claudin‐1. Only four patients carrying the same mutation of the CLDN1 gene have been described until now. We report a patient presenting with the clinical characteristics of NISCH syndrome and carrying a novel mutation in the CLDN1 gene. Hum Mutat 27(5), 408–410, 2006. © 2006 Wiley‐Liss, Inc.
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