NISCH syndrome with hypothyroxinemia

Abstract

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.

Keywords

• NISCH syndrome
• Neonatal cholestasis
• Ichthyosis
• Alopecia