Neonatal ichthyosis–sclerosing cholangitis syndrome

Neonatal ichthyosis–sclerosing cholangitis syndrome (NISCH syndrome) is a rare autosomal recessive genetic disorder that affects the skin and liver. The syndrome is characterized by ichthyosis, which is a condition that causes dry, scaly skin, and sclerosing cholangitis, a disease that leads to inflammation and scarring of the bile ducts in the liver.

Etymology

The term "Neonatal ichthyosis–sclerosing cholangitis syndrome" is derived from the main symptoms of the condition. "Neonatal" refers to the period immediately after birth, "ichthyosis" is a term for a group of skin disorders that cause dry, scaly skin, and "sclerosing cholangitis" is a condition that causes inflammation and scarring of the bile ducts in the liver.

Symptoms

The main symptoms of NISCH syndrome are neonatal ichthyosis and sclerosing cholangitis. Other symptoms may include growth retardation, hepatomegaly (enlarged liver), and splenomegaly (enlarged spleen). Some patients may also develop cirrhosis of the liver.

Causes

NISCH syndrome is caused by mutations in the CLDN1 gene. This gene provides instructions for making a protein that is essential for the proper function of tight junctions, which are connections between cells that prevent the leakage of fluid.

Diagnosis

Diagnosis of NISCH syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include skin biopsy, liver biopsy, and genetic testing.

Treatment

There is currently no cure for NISCH syndrome. Treatment is symptomatic and supportive, and may include measures to manage ichthyosis, such as the use of moisturizers and keratolytic agents, and treatment of liver disease.

See also

• Ichthyosis
• Sclerosing cholangitis
• Genetic disorder
• CLDN1

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