NISCH syndrome: An extremely rare cause of neonatal cholestasis
The NISCH syndrome is an extremely rare autosomal recessive syndrome characterized by neonatal ichthyosis and sclerosing cholangitis.1 First reported in 2002 in 2 inbred kindreds of Moroccan origin,2 to date it has only been described in 18 patients from 9 different families (Table S1). Associated clinical features include scarring alopecia, scalp hypotrichosis, enamel hypoplasia and in individual cases, mental retardation and bilateral uveal synechiae.3,4 In an effort to expand our knowledge of this syndrome, we contribute with this clinical case and briefly summarize the c urrent knowledge on this entity.
Source: Journal of Hepatology - Category: Gastroenterology Authors: Ana Carolina Izurieta Pacheco, Laura Monfort Carretero, Carolina Prat Torres, Alfredo Garc ía-Alix Pérez, Cristina Molera Busoms Tags: Letter to the Editor Source Type: research
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