What are the symptoms of Chanarin Dorfman disease?

Chanarin-Dorfman disease (CDD), also known as neutral lipid storage disease with ichthyosis (NLSDI), is a rare genetic disorder characterized by the accumulation of triglycerides (a type of fat) in various tissues and organs throughout the body. The symptoms of CDD can vary widely among affected individuals, but the most common features include:

1. Ichthyosis: The most characteristic feature of CDD is the presence of ichthyosis, a skin condition characterized by dry, scaly skin. The severity of ichthyosis can vary from mild to severe and may be present at birth or develop later in life.
2. Hepatomegaly: Enlargement of the liver (hepatomegaly) is common in individuals with CDD due to the accumulation of fat in liver cells. This can lead to liver dysfunction and may result in elevated liver enzymes.
3. Neurological abnormalities: Some individuals with CDD may experience neurological symptoms, such as developmental delay, intellectual disability, seizures, or muscle weakness. These symptoms are thought to be caused by the accumulation of fat in the brain and nervous system.
4. Eye abnormalities: CDD can affect the eyes, leading to abnormalities such as cataracts (clouding of the lens), strabismus (crossed eyes), or retinal degeneration.
5. Skeletal abnormalities: Some individuals with CDD may have skeletal abnormalities, such as short stature, joint deformities, or abnormalities of the bones in the hands and feet.
6. Cardiomyopathy: In some cases, CDD can lead to cardiomyopathy, a condition that affects the heart muscle and can result in symptoms such as fatigue, shortness of breath, and heart palpitations.
7. Other features: Other features that have been reported in individuals with CDD include hearing loss, delayed puberty, and dental abnormalities.

The symptoms of CDD can vary widely among affected individuals, and not all individuals will experience all of the symptoms listed above. The severity of symptoms can also vary, even among individuals with the same genetic mutation. Treatment for CDD is typically aimed at managing symptoms and may include supportive care such as moisturizers for the skin, management of liver dysfunction, and monitoring for complications such as cardiomyopathy.

What are the causes of Chanarin Dorfman disease?

Chanarin-Dorfman disease (CDD) is caused by mutations in the ABHD5 gene, also known as the CGI-58 gene. This gene provides instructions for making a protein that is involved in the breakdown of fats (lipids) in the body. Mutations in the ABHD5 gene lead to a deficiency or dysfunction of the protein, which impairs the breakdown of triglycerides, a type of fat, in various tissues and organs throughout the body.

The accumulation of triglycerides in tissues such as the skin, liver, muscle, and other organs leads to the characteristic features of CDD, including ichthyosis (dry, scaly skin), hepatomegaly (enlargement of the liver), and other symptoms.

CDD is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated ABHD5 gene (one from each parent) to develop the disorder. Individuals who inherit only one copy of the mutated gene are carriers of the disorder and typically do not show any symptoms.

The severity of CDD can vary depending on the specific mutation in the ABHD5 gene and other factors. Some individuals with CDD may have mild symptoms that only affect the skin, while others may have more severe symptoms that affect multiple organs and systems in the body.

Genetic testing can be used to confirm a diagnosis of CDD by identifying mutations in the ABHD5 gene. Prenatal testing is also available for families with a known history of CDD to determine if a fetus is affected.

What is the treatment for Chanarin Dorfman disease?

There is currently no specific treatment for Chanarin-Dorfman disease (CDD) that addresses the underlying cause of the condition, which is the accumulation of triglycerides in various tissues and organs throughout the body. Treatment for CDD is generally aimed at managing symptoms and complications associated with the disorder.

Treatment options may include:

1. Skin care: For individuals with ichthyosis, moisturizing creams and ointments can help soothe dry, scaly skin and improve its appearance. Regular bathing and gentle exfoliation may also be beneficial.
2. Liver management: For individuals with liver involvement, regular monitoring of liver function and management of any liver-related complications, such as hepatomegaly or elevated liver enzymes, may be necessary. This may include dietary modifications and medications to manage liver dysfunction.
3. Eye care: Regular eye exams and management of eye-related complications, such as cataracts or retinal degeneration, may be necessary.
4. Management of other complications: Treatment may be needed to manage other complications associated with CDD, such as neurological symptoms, skeletal abnormalities, or cardiomyopathy. This may include medications, physical therapy, and other interventions as needed.
5. Genetic counseling: Genetic counseling may be recommended for individuals with CDD and their families to discuss the genetic basis of the disorder, the likelihood of passing it on to future generations, and available testing options.

Because CDD is a rare and complex disorder, treatment should be individualized based on the specific symptoms and needs of each individual. It’s important for individuals with CDD to work closely with a healthcare team that is familiar with the disorder to develop a comprehensive treatment plan.