Chanarin-Dorfman syndrome

Abstract

Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. A 38-year-old male patient was referred to our Internal Medicine Clinic for consultation with laboratory findings as follows: high aspartate aminotransferase

Chanarin‐Dorfman Syndrome: A comprehensive review

“…However, such diagnoses at later ages are associated with significantly higher mortality and morbidity. 44,45 Nearly half of those displaying this syndrome around the world had consanguineous parents. In addition, the rate of consanguineous marriages in countries/regions, such as Turkey, India and the Middle East, was higher than the world average.…”

“…Diagnosis for the syndrome is sometimes delayed, with the condition only being diagnosed at an advanced age. However, such diagnoses at later ages are associated with significantly higher mortality and morbidity 44,45 …”

Chanarin-Dorfman Syndrome: A Case Report

“…Mutation in ABHD5/CG 158 gene which is responsible for the activation of enzyme hydrolysing triacylglycerol, triglyceride lipase is the main metabolic defect (5). Mutation in ABHD5/CG158 gene causes accumulation of lipid molecules in leukocytes, fibroblasts, liver and muscle cells by inhibition of lipolysis which is responsible for the symptoms like ichtyosis, loss of hearing, hepatomegaly, splenomegaly, cirrhosis, cataract, myopathy and mental retardation (6)(7)(8). The disease is frequent in Mediterranean countries and especially in some middle east countries in which widespread consanguineous marriage has been seen.…”

Metabolic and Nutritional Disorders Relevant in Dermatology

“…7. 1Fabry Disease (Anderson-Fabry Disease) • Definition: Neutral lipid storage disease, also known as Chanarin-Dorfman syndrome, is a rare non-lysosomal, autosomal recessive disorder due to mutations of ABHD5/CGI58 (Kalyon et al 2019) and is characterized by systemic deposition of triacylglycerol in multiple organs, including skin, muscle, liver, blood leukocytes, and central nervous system (Schweiger et al 2009). In rare cases, renal involvement is also possible (Verma et al 2017).…”

“…Non-bullous congenital ichthyosiform erythroderma is the type of ichthyosis seen in association with this disease which is due to a pronounced defect in the skin barrier function of the skin secondary to the excessive nonpolar lipids' incorporation into the lamellar membrane (Demir et al 2017;Schweiger et al 2009). • Pathological manifestation: Pathologically, it is characterized by the accumulation of lipid vacuoles in neutrophils, known as Jordan's anomaly (Kalyon et al 2019).…”