Chanarin disease

From WikiMD's Wellness Encyclopedia

Chanarin-Dorfman Syndrome (CDS), also known as Neutral Lipid Storage Disease with Ichthyosis (NLSDI), is a rare genetic disorder characterized by the abnormal accumulation of neutral lipids in various cells of the body, including skin, muscle, liver, and leukocytes. This condition is inherited in an autosomal recessive manner and is caused by mutations in the ABHD5 gene, also known as CGI-58. The ABHD5 gene plays a crucial role in the regulation of lipid metabolism, and its dysfunction leads to the hallmark features of Chanarin-Dorfman Syndrome.

Symptoms and Diagnosis[edit | edit source]

The clinical manifestations of Chanarin-Dorfman Syndrome can vary widely among affected individuals. The most common symptom is ichthyosis, a condition characterized by dry, scaly skin. However, the ichthyosis in CDS is non-syndromic, meaning it is not associated with the systemic symptoms typically seen in other forms of the condition. Other symptoms may include hepatomegaly (enlarged liver), myopathy (muscle weakness), and atypical lipid profiles in blood tests. In some cases, affected individuals may also exhibit neurological symptoms, hearing loss, and visual impairments.

Diagnosis of Chanarin-Dorfman Syndrome is primarily based on the clinical presentation and the identification of lipid droplets in leukocytes, a feature known as Jordans' anomaly. Genetic testing for mutations in the ABHD5 gene can confirm the diagnosis.

Treatment and Management[edit | edit source]

There is currently no cure for Chanarin-Dorfman Syndrome. Treatment is symptomatic and supportive, focusing on managing the skin and liver symptoms. Emollients and keratolytic agents may be used to treat the ichthyosis, while regular monitoring of liver function is essential to manage hepatomegaly and prevent liver damage. Dietary modifications, including a low-fat diet, may also be recommended to manage the lipid abnormalities.

Epidemiology[edit | edit source]

Chanarin-Dorfman Syndrome is a rare disorder, with fewer than 100 cases reported in the medical literature worldwide. It affects males and females equally and has been identified in individuals of various ethnic backgrounds.

Genetics[edit | edit source]

The ABHD5 gene, located on chromosome 3p21, encodes a protein that is essential for the mobilization of stored lipids in cells. Mutations in this gene disrupt lipid metabolism, leading to the accumulation of triglycerides in the cytoplasm of cells, which is the biochemical hallmark of Chanarin-Dorfman Syndrome. The disorder is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Conclusion[edit | edit source]

Chanarin-Dorfman Syndrome is a complex disorder with a wide range of symptoms affecting multiple organ systems. Due to its rarity, it poses significant challenges in diagnosis and management. Ongoing research into the molecular mechanisms underlying the disorder may provide new insights into potential treatments and interventions. Families affected by Chanarin-Dorfman Syndrome may benefit from genetic counseling to understand the inheritance pattern and the risks to future offspring.

Chanarin disease Resources
Wikipedia
WikiMD
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD

WikiMD's Wellness Encyclopedia

Let Food Be Thy Medicine
Medicine Thy Food - Hippocrates

Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

Contributors: Prab R. Tumpati, MD