NISCH syndrome with hypothyroxinemia.
Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by ichthyosis, sclerosing cholangitis and alopecia. Only 5 patients have been described till now. We report a patient presenting with clinical characteristics of NISCH syndrome and hypothyroxinemia.
Shah
Ira
I
Pediatric Hepatobiliary Clinic . B. J. Wadia Hospital for Children. irashah@pediatriconcall.com
Bhatnagar
Susmita
S
D000505:Alopecia / Q000175:diagnosis*; D015209:Cholangitis, Sclerosing / Q000175:diagnosis*; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000175:diagnosis*; D007057:Ichthyosis / Q000175:diagnosis*; D007223:Infant; D008297:Male; D013577:Syndrome; D013974:Thyroxine / Q000097:blood
D013974:Thyroxine