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Chanarin-Dorfman syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Chanarin-Dorfman syndrome

Chanarin-Dorfman syndrome is a rare genetic disorder characterized by the body's inability to properly break down triglycerides, leading to fat accumulation in tissues and dry, scaly skin.

Overview & Symptoms

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, 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.

Associated Gene

  • ABHD5

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.

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

Frequently Asked Questions

Diagnosis relies on a combination of clinical clues (congenital ichthyosis, hepatomegaly, muscle weakness) and laboratory confirmation. Genetic testing for pathogenic variants in the ABHD5 gene is the gold standard. Skin biopsy showing lipid‑laden vacuoles in keratinocytes and liver imaging to assess fatty infiltration can support the diagnosis, but a positive molecular result confirms it.
low‑fat, high‑carbohydrate diet is commonly recommended. Emphasize complex carbohydrates (whole grains, fruits, vegetables) and limit saturated and trans fats. Medium‑chain triglyceride (MCT) oil may be used under specialist guidance because MCTs are metabolized differently and do not require ATGL for clearance. Adequate protein supports muscle mass, and a daily multivitamin with fat‑soluble vitamins (A, D, E, K) is advised because malabsorption can occur.
Urgent evaluation is needed if you develop sudden abdominal swelling, jaundice, dark urine, severe fatigue, or right‑upper‑quadrant pain, as these may signal acute liver decompensation or hepatic failure. Also seek immediate care for unexplained confusion, easy bruising, or bleeding, which can indicate coagulopathy from liver dysfunction.
Topical therapy is the mainstay. Regular use of emollients containing ceramides or urea helps restore barrier function. Keratolytic agents such as 5‑10% salicylic acid or ammonium lactate creams can reduce scaling. In refractory cases, a dermatologist may prescribe low‑dose oral retinoids (e.g., acitretin) but these require close monitoring of liver enzymes and lipid levels.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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