Ichthyosis–sclerosing cholangitis syndrome

Ichthyosis–sclerosing cholangitis syndrome is a rare genetic disorder characterized by the combination of ichthyosis, a skin condition, and sclerosing cholangitis, a disease of the bile ducts. This syndrome is also known as ISCS.

Symptoms and Signs

The primary symptoms of Ichthyosis–sclerosing cholangitis syndrome include skin abnormalities and liver disease. The skin abnormalities are similar to those seen in ichthyosis, including dry, scaly skin. The liver disease is due to sclerosing cholangitis, which causes inflammation and scarring of the bile ducts, leading to liver damage.

Causes

Ichthyosis–sclerosing cholangitis 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 fluids and molecules.

Diagnosis

Diagnosis of Ichthyosis–sclerosing cholangitis 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 genetic testing, which can identify mutations in the CLDN1 gene.

Treatment

Treatment of Ichthyosis–sclerosing cholangitis syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may include the use of medications to manage skin symptoms and liver disease. In severe cases, a liver transplant may be necessary.

Prognosis

The prognosis for individuals with Ichthyosis–sclerosing cholangitis syndrome varies. The severity of the disease can range from mild to severe. Early diagnosis and treatment can improve the prognosis.

See also

• Ichthyosis
• Sclerosing cholangitis
• CLDN1
• Liver transplant

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