Dorfman-Chanarin disease

Dorfman-Chanarin disease is a rare inherited condition that is known by many names, including Chanarin-Dorfman Syndrome, neutral lipid storage disease with ichthyosis, and others. The various names suggest that there is an abnormal handling of fats in the body along with skin issues such as ichthyosis, which is characterized by dry, scaly skin. Although detailed information is limited, the disease is recognized in medical databases such as OMIM, Orphanet, and GARD. As an inherited disorder, Dorfman-Chanarin disease is linked to genetic changes and affects how the body processes lipids. The condition has been associated with a mutation in the ABHD5 gene. Information about its complete clinical presentation, including the range of symptoms and progression, is still being studied and more details may emerge in future research.

People with Dorfman-Chanarin disease may experience skin-related symptoms. The use of terms such as ichthyosis and ichthyosiform in alternative names for the condition hints at the presence of dry, scaly skin and other abnormalities in the skin’s appearance. However, more detailed and specific information about the full range of symptoms is currently limited for this condition.

Dorfman-Chanarin disease is caused by genetic changes, specifically in the ABHD5 gene. This gene has a role in fat metabolism, and mutations in it can disrupt the normal processing of lipids. The condition is inherited, meaning that the genetic mutation is passed from parents to children. Detailed insights into the exact mechanisms are still under study, so information remains limited in this area.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.