Chanarin-Dorfman syndrome

Description

Chanarin-Dorfman syndrome is a condition in which fats (lipids) build up in the body. Affected individuals have trouble breaking down certain fats called triglycerides; these fats then accumulate in organs and tissues, including the skin, liver, muscles, intestine, and bone marrow.

People with Chanarin-Dorfman syndrome have dry, scaly skin (ichthyosis), which is usually present at birth. They may also have lower eyelids that turn out so that the inner surface is exposed (ectropion). Additional features of Chanarin-Dorfman syndrome may include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), hearing loss, short stature, progressive muscle weakness (myopathy), and intellectual disabilities. Some people with Chanarin-Dorfman syndrome develop liver failure.

The signs and symptoms of Chanarin-Dorfman syndrome can vary greatly among individuals, which can delay the diagnosis of the condition.

Frequency

Chanarin-Dorfman syndrome is a rare condition. Approximately 150 people with this condition have been reported in the literature.

Causes

Several variants (also called mutations) in the ABHD5 gene have been found to cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) an enzyme called adipose triglyceride lipase (ATGL). This enzyme breaks down triglycerides, which are a major source of stored energy in cells. The ATGL enzyme helps break triglycerides down into simpler molecules called fatty acids, which the body can then use for energy.

ABHD5 gene variants impair the protein's ability to activate the ATGL enzyme. If there is not enough activated ATGL enzyme to break down triglycerides, these fats can accumulate in tissues throughout the body. Over time, the buildup of triglycerides can damage cells and tissues, leading to the signs and symptoms of Chanarin-Dorfman syndrome.

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Autosomal recessive inheritance. Credit: U.S. National Library of Medicine.

Other Names for This Condition

• CDS
• Chanarin-Dorfman disease
• DCS
• Dorfman-Chanarin disease
• Dorfman-Chanarin syndrome
• Ichthyosiform Erythroderma with Leukocyte Vacuolation
• Ichthyotic neutral lipid storage disease
• Neutral lipid storage disease with ichthyosis
• NLSDI
• Triglyceride storage disease with ichthyosis
• Triglyceride storage disease with impaired long-chain fatty acid oxidation

Where this page came from

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