Written by: Zobiana Dillsworth
Medically reviewed by: Dr. Lohi Pratti
Chanarin-Dorfman syndrome, or CDS, is a subtype of ichthyosis, which is a group of skin conditions. CDS is a rare genetic disease, affecting fewer than 1,000 people across the United States. However, it is more common in Mediterranean and Middle Eastern nations. It is caused by variants in the gene ABHD5, which is a protein code. This specific genetic variation is a recessive gene, meaning both of a child’s parents are carriers of CDS. A child’s chances of developing CDS can be determined through genetic testing on the parents.
The buildup of lipid vacuoles in neutrophils is a hallmark of CDS, a multisystem, extremely uncommon autosomal recessive lipid storage illness. As a result of mutation in the ABHD5 gene, lipid is deposited in granulocytes in many locations in the human body, including the muscle, liver, eye, ear, central nervous system, and bone marrow.
When a child is born encased in a shiny membrane (a colloid baby), they will most likely develop some type of ichthyosis. This shiny membrane may cause the baby’s eyelids and/or lips to turn outward. Outside of infancy, there are more definite symptoms. People with CDS may have scaly skin, itchiness, small ears, an enlarged liver, an enlarged spleen, cataracts at an early age, and partial deafness. Additionally, these patients may not sweat as often as a normal person does, meaning they have drier skin and can overheat at a faster rate. It has been reported that patients with CDS may experience muscle weakness, hair loss, loss of reflexes, heart abnormalities, or obesity. There are possible effects on fertility, mental development, and physical growth. Other clinical manifestations of CDS include, hearing loss, hepatomegaly (an enlarged liver), splenomegaly (an enlarged spleen), cirrhosis (chronic liver damage), cataracts (clouding of the eye’s lens), keratopathy (disease of the cornea), myopathy (muscle disease), and mental retardation. CDS morbidity and mortality are linked to liver involvement.
Not much is known about CDS, but doctors are working toward finding a cure for this condition. After CDSis diagnosed, a multidisciplinary team of internal medicine, dermatology, ophthalmology, nutrition, and gastrointestinal should treat it. Therapy relies heavily on diet. A dietitian advises patients to eat a diet low in long-chain fatty acids and high in medium-chain. Ursodeoxycholic acid 250 mg 3×1/day oral and local treatment for ichthyosis can give significant assistance. In 2022, a case involving a three-year-old girl with CDS was used to identify possible treatments. This patient solely demonstrated ichthyosis symptoms, seemingly unaffected in any other way. The patient was given alkaline baths, which did nothing to improve her symptoms. Eventually, she was prescribed acitretin, which greatly improved her skin within three years. An adolescent with a similar condition was also given acitretin, but, in his case, it worsened the chemical aspect of his body. Ultimately, treatment must be done on a specific basis because too little is known about CDS and symptoms vary from patient to patient.
Lipid accumulation in neutrophilis. (Image Source: Kalyon et al., 2023)
References:
“An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Sclerosis.” Journal of Pediatric Gastroenterology and Nutrition,
Cakmak E and Bagci G. “Chanarin-Dorfman Syndrome: A comprehensive review.” Liver Int Off J Int Assoc Study Liver. 2021 May;41(5):905–14.
“Chanarin Dorfman syndrome.” National Institute of Health,
“Chanarin Dorfmans Syndrome: A Patient's Perspective.” Foundation for Ichtyosis & Related Skin Types,
“Chanarin-Dorfman syndrome treatment with acitretin.” JAAD Case Reports,
Kalyon S et al.. Chanarin-Dorfman syndrome. Turk J Gastroenterol [Internet]. 2019 Jan [cited 2023 Jul 17];30(1):105–8. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389303/
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