[MIM 607 626]

Acronym for Neonatal Ichtyosis Sclerosing Cholangitis.

Very rare: a few families in Morocco and Sweden. Autosomal recessive transmission of a CLDN1 gene mutation (3q27-q28) coding for claudine 1, a protein involved in intercellular tight junctions at the level of the liver and skin. Neonatal form of syndromic ichthyosis associated with a sclerosing cholangitis.

Clinical picture:

-        ichthyosis: white scales sparing the flexion creases

-        hypotrichosis of the scalp with residual alopecia, sparse eyebrows and eyelashes

-        neonatal sclerosing cholangitis with a clinical presentation closely similar to biliary atresia,  and causing jaundice and pruritus. The evolution is variable: some cases show a regression of liver damage under treatment with ursodeoxycholic acid; in other cases, hepatic fibrosis of varying importance followed with biliary cirrhosis with portal hypertension.

-        dental anomalies: imperfect amelogenesis

Treatment of liver pathology: ursodeoxycholic acid as soon as the diagnosis is made; liver transplantation in case of cirrhotic changes. For ichthyosis, local care.

Anesthetic implications:

check hemostasis and platelets count; portal hypertension; pruritus; ichthyosis: difficult peripheral venous access; take care to secure catheters and intubation tubes as hyperkeratosis reduces the adhesion of dressings; fragile teeth.

References : 

• Paganelli M, Stephenne X, Gilis A, Jacquemin E, Henrion-Caude A, Girard M, Gonzales E, Revencu N, Reding R, Wanty C, Smets F, Sokal E. 
  Neonatal ichtyosis and sclerosing cholangitis syndrome : extremely variable liver disease severity from claudin1 deficiency. 
  J Pediatr Gastroenterol &Nutr 2011; 53: 350-4.
• Szepetowski S, Lacoste C, Mallet S, Roquelaure B, Badens C, Fabre A.
  Le syndrome NISCH, une cause rare de cholestase néonatale : à propos d’un cas.
  Arch Pédiatr 2017 ; 24 : 1228-34
• Khalifa C, Boliaki Botombe G, Stephenne X, Veyckemans F.
  Anesthetic care of  2 siblings with neonatal ichtyosis and sclerosing cholangitis syndrome : case reports.
  A&A Practice 2018 ; 11 : 216-8.

Updated: January 2018