Chanarin disease

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

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

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

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

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

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
Latest articles Most recent articles Ongoing trials	Wikipedia