Neonatal-ithyosis-sclerosing-cholangitis-syndromeQ80.8; K83.0
Synonym(s)
HistoryThis section has been translated automatically.
Gould 1845; Baala et al. 2002
DefinitionThis section has been translated automatically.
The very rare autosomal recessive complex genodermatosis, which occurs already in the neonatal period, is clinically conspicuous by a pronounced icterus with hepatomegaly and pruritus (sclerosing cholangitis). The ichthyotic changes are trunk-accentuated, rather mild. More striking is the frontal hypotrichosis (scarring alopecia) of the scalp.
Occurrence/EpidemiologyThis section has been translated automatically.
< 20 patients have been described so far as sporadic cases and in unrelated consanguine Moroccan families and in Sweden (Szepetowski S et al. (2017).
EtiopathogenesisThis section has been translated automatically.
Detectable are (so far 3 different) mutations in the CLDN1 gene (3q28-q29), which codes for claudin-1, a protein of the "tight junctions" (Grosse B et al.2012 - see below cell contacts). In the"niche liver", claudin-1 is no longer expressed in hepatocytes or cholangiocytes.
Clinical featuresThis section has been translated automatically.
All patients come with neonatal sclerosing cholangitis with icterus, pruritus, hepatomegaly. Inernistically, the syndrome mimics the clinical picture of biliary atresia. The severity of the liver disease can vary, from a progressive course with hepatic insufficiency up to a bland course with regression of cholestasis.
The symptoms of ichthyosis are truncated, diffuse white scaling; the joint bends are left out. Accompanying symptoms are flat scaling of the scalp, hypotrichosis, scarred alopecia and thinned eyebrows and eyelashes.
Other potential symptoms are:
- Teeth: Oligodontia, hypodontia and enamel hypoplasia.
- Gastroenterologically: portal hypertension, open extra-hepatic bile duct, splenomegaly.
LaboratoryThis section has been translated automatically.
Laboratory parameters of a cholestasis.
HistologyThis section has been translated automatically.
Dilated fibrosis and proliferation of the bile ducts. Vacuolated leukocytes are conspicuous.
DiagnosisThis section has been translated automatically.
Skin findings with ichthyosis and alopecia; icterus: clarification by cholangiography; sonography, liver biopsy
TherapyThis section has been translated automatically.
The treatment is symptomatic. In case of liver failure, liver transplantation is an absolute necessity.
Ichthyosis is treated by hydration of the skin (topical application of skin care creams and skin care oils); gfls.UV therapy.
Progression/forecastThis section has been translated automatically.
Prognosis and course of the disease depend exclusively on the severity and course of the liver disease.
LiteratureThis section has been translated automatically.
- Grosse B et al(2012) Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology 55:1249-1259.
- Khalifa C et al (2018) Anesthetic Care of 2 Siblings With Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome: Case Reports. A A Pract 11:216-218.
- Kirchmeier P et al (2014) Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome. Br J Dermatol 170:976-978.
- Szepetowski S et al (2017) NISCH syndrome, a rare cause of neonatal cholestasis: A case report. Arch Pediatr 24:1228-1234.