A Rare Case of Ichthyosis and Fatty Liver Disease: Chanarin Dorfman Syndrome

Abstract

Purpose: Chanarin-Dorfman syndrome is a rare autosomal recessive multisystem triglyceride storage disorder that affects several organs. Case Report: A 39-year-old man of Middle Eastern origin was seen in clinic for evaluation of abnormal liver function tests. Past medical history was significant for congenital ichthyosis, decreased hearing and development delay. He took no medications. Family history significant for father with cirrhosis. Two of his siblings had ichythosis. On exam noted to have ichthyosis, cataracts and mild development delay. Labs showed mild elevation of transaminases. Hepatitis serologies, iron studies, ceruloplasmin were negative. Abdominal ultrasound showed fatty liver. Liver biopsy showed moderate mixed macro and microvesicular steatosis. Trichrome stain showed pericellular and perivenular fibrosis. Peripheral smear showed lipid vacuoles within granulocytes. Based on clinical exam, smear and biopsy findings diagnosis of Chanarin Dorfman syndrome was made. He was seen in consultation in endocrinology and advised a low fat diet that helped his ichthyosis, however, he found it hard to remain on this diet. He continues to remain stable and has been on vitamin E for possible effects on steatosis. Conclusion: First described in 1974 and seen mostly among people of Mediterranean and Middle Eastern origin, the specific enzymatic error remains unknown. The defect is thought to lie within the recycling pathway that converts triacylglycerol to phospholipids. Mutations in the human comparative gene identification-58 (CGI-58) have been linked to this syndrome. Clinical features include fatty liver, ichthyosis, myopathy, cataracts, impaired retinal function, nystagmus, sensorineural deafness, mental and growth retardation, microcephaly, cardiomyopathy, and malabsorption. Storage of neutral lipid in the form of triacylglycerol is seen accumulating as droplets within granulocytes, liver, muscle, and skin. These droplets are visible on peripheral smear as vacuoles in granulocytes and monocytes (Jordan's anomaly). Peripheral smear examination is therefore recommended as a screening test in patients with congenital ichthyosis in order to make an early diagnosis of this rare syndrome and minimize the need for excessive testing. There is no effective treatment for this syndrome, but a low fat diet is reported to decrease skin and liver findings. There are approximately 50 cases reported to date in the literature and our case needs to be added to this body of literature. This patient has an interesting family history with several family members being affected and we hope to pursue genetic testing in order to better understand the disease.