Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
Abstract Background 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...
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doaj-236a233c87c5425898d3c586e89125ea2021-04-02T15:44:41ZengBMCBMC Medical Genetics1471-23502018-05-011911510.1186/s12881-018-0610-0Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parentsMurat Durdu0Sara Missaglia1Laura Moro2Daniela Tavian3Baskent University Faculty of Medicine, Department of Dermatology, Adana HospitalLaboratory of Cellular Biochemistry and Molecular Biology-CRIBENS, Catholic University of the Sacred HeartDepartment of Pharmaceutical Sciences, University of Piemonte OrientaleLaboratory of Cellular Biochemistry and Molecular Biology-CRIBENS, Catholic University of the Sacred HeartAbstract Background 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. Case presentation 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. Conclusions To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.http://link.springer.com/article/10.1186/s12881-018-0610-0Chanarin-Dorfman SyndromeIchthyosisLipid disorderLiver involvementMyopathy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Murat Durdu Sara Missaglia Laura Moro Daniela Tavian |
spellingShingle |
Murat Durdu Sara Missaglia Laura Moro Daniela Tavian Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents BMC Medical Genetics Chanarin-Dorfman Syndrome Ichthyosis Lipid disorder Liver involvement Myopathy |
author_facet |
Murat Durdu Sara Missaglia Laura Moro Daniela Tavian |
author_sort |
Murat Durdu |
title |
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents |
title_short |
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents |
title_full |
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents |
title_fullStr |
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents |
title_full_unstemmed |
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents |
title_sort |
clinical and genetic characterization of a chanarin dorfman syndrome patient born to diseased parents |
publisher |
BMC |
series |
BMC Medical Genetics |
issn |
1471-2350 |
publishDate |
2018-05-01 |
description |
Abstract Background 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. Case presentation 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. Conclusions To the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth. |
topic |
Chanarin-Dorfman Syndrome Ichthyosis Lipid disorder Liver involvement Myopathy |
url |
http://link.springer.com/article/10.1186/s12881-018-0610-0 |
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