Chanarin–Dorfman syndrome ichthyosis
Chanarin–Dorfman syndrome (CDS), also known as Ichthyosiform Erythroderma with Lipid Vacuolization or Neutral Lipid Storage Disease with Ichthyosis (NLSDI), is a rare autosomal recessive genetic disorder characterized by a combination of ichthyosis (dry, scaly skin) and systemic lipid metabolism abnormalities.
Etiology[edit | edit source]
CDS is caused by mutations in the ABHD5 gene, which is located on chromosome 3p21. The ABHD5 gene provides instructions for making a protein that is found in cells throughout the body and plays a critical role in the breakdown of certain fats called triglycerides. Mutations in the ABHD5 gene disrupt the normal breakdown of triglycerides, leading to their accumulation in various tissues and organs of the body, including the skin, muscles, liver, and eyes.
Clinical Features[edit | edit source]
The most common clinical feature of CDS is congenital ichthyosis, which is present at birth or develops shortly thereafter. The skin abnormalities may range from mild scaling to severe erythroderma. Other features may include hepatomegaly (enlarged liver), cataracts, muscle weakness, ataxia (lack of muscle control), and intellectual disability.
Diagnosis[edit | edit source]
Diagnosis of CDS is based on clinical features, skin biopsy showing lipid droplets in the granular layer of the epidermis, and genetic testing confirming a mutation in the ABHD5 gene.
Treatment[edit | edit source]
There is currently no cure for CDS. Treatment is symptomatic and supportive, focusing on managing the skin abnormalities and other symptoms. This may include the use of emollients and keratolytics for the skin, and regular follow-up to monitor for potential complications such as liver disease and cataracts.
Epidemiology[edit | edit source]
CDS is extremely rare, with fewer than 100 cases reported worldwide. It has been reported in individuals of various ethnic backgrounds, but appears to be more common in certain populations, such as those of Jewish and Turkish descent.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Chanarin–Dorfman syndrome ichthyosis is a rare disease.
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