Confirmation of the origin of NISCH syndrome.
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.
Feldmeyer
L
L
Institute of Cell Biology, ETH Zurich, Switzerland.
Huber
M
M
Fellmann
F
F
Beckmann
J S
JS
Frenk
E
E
Hohl
D
D
D000293:Adolescent; D015209:Cholangitis, Sclerosing / Q000175:diagnosis / Q000235:genetics*; D062445:Claudin-1; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000166:cytology; D013577:Syndrome
C568108:CLDN1 protein, human; D062445:Claudin-1; D008565:Membrane Proteins