Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

BMC Medical Genetics
Murat DurduDaniela Tavian

Abstract

Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. In this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan's anomaly, are detectable in their leucocytes. To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affect...Continue Reading

References

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Citations

Sep 6, 2019·Clinical and Experimental Dermatology·J Al-HageM Kurban
Sep 18, 2020·Expert Review of Neurotherapeutics·Corrado AngeliniSabrina Sacconi
May 2, 2019·Therapeutic Advances in Neurological Disorders·Corrado AngeliniDaniela Tavian
Dec 31, 2019·Lipids in Health and Disease·Ali Haydar EskiocakDaniela Tavian
Nov 5, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Florian GeltingerMark Rinnerthaler
Jan 18, 2021·Liver International : Official Journal of the International Association for the Study of the Liver·Erol Cakmak, Gokhan Bagci
May 15, 2021·European Journal of Translational Myology·Daniela TavianSara Missaglia
Feb 9, 2021·Clinical Diabetes : a Publication of the American Diabetes Association·Stephen Charles BronsonChelliah Mythili

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