Dorfman–Chanarin Syndrome: A Case Report

Methre, Seema T.; Godbole, R.; Nayar, Priyanka S.; Manchanda, Rumma V.

doi:10.1007/s12288-011-0091-1

Cited by 8 publications

(8 citation statements)

References 3 publications

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“…Currently, there is no specific treatment for CDS. However, a diet low in fatty acids with medium chain triglycerides (MCT) supplementation was reported to decrease hepatomegaly and normalize hepatic enzymes, especially when early initiated in combination with vitamin E and ursodeoxycholic acid [4,7,[13][14][15]. Although our patient is now 29 years old, after molecular testing, we have recommended a fat-restricted diet+MCT because he presented hepatomegaly, hepatosteatosis and elevation in liver function tests.…”

Section: Discussionmentioning

confidence: 90%

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

et al. 2019

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Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.

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Section: Discussionmentioning

confidence: 90%

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

et al. 2019

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“…Moisturizers can be used for the symptomatic treatment of ichthyosis and pruritus. 6 In conclusion, we report a Turkish child presenting with CDS, a disease of the lipid metabolism, which is caused by various mutations of the ABHD5 gene. The absence of other possible clinical signs of CDS in our patient may be attributed to the considerably younger age of our patient compared with the cases reported in literature.…”

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confidence: 88%

“…It has been reported that having a diet with low‐ and medium‐chain fatty acids can improve the skin and liver signs. Moisturizers can be used for the symptomatic treatment of ichthyosis and pruritus …”

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confidence: 99%

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Chanarin-Dorfman syndrome

et al. 2017

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“…Other clinical findings aside from ichthyosis include hepatomegaly, bilateral ectropion, cataract, muscle weakness, bilateral sensorineural deafness, splenomegaly, short stature, small ears, strabismus and mental retardation. [64][65][66][67][68][69][70][71][72][73][74] In addition, clinical findings, such as microcephaly, cardiomyopathy, nystagmus, eclabion, rickets, renal eccrine gland and pancreatic involvement, are also observed in rare cases. [75][76][77][78][79][80] The most common clinical findings in patients were ichtyosis 100% and hepatomegaly 60%, and the others were bilateral ectropion, cataract, neurosensory deafness and splenomegaly (29%, 22%, 17% and 13% respectively).…”

Section: Liver Disease Liver Phenotype Genotype/mutationmentioning

confidence: 99%

Chanarin‐Dorfman Syndrome: A comprehensive review

Çakmak

Bağci

2021

Liver International

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Chanarin-Dorfman syndrome (CDS) is an extremely rare, multisystemic, autosomal recessive, neutral lipid storage disease (NLSD). It was first observed by Jordan in 1953, who identified lipid vacuoles in the cytoplasm of leukocytes from the peripheral blood smear of 2 brothers who suffered from progressive muscular dystrophy. 1 Two decades later, Dorfman in 1974 and Chanarin in 1975 reported for the first time a neutral lipid storage disease characterized by lipid accumulation in the peripheral blood leukocytes, bone marrow granulocyte precursors, liver cells and many other cells in the body. 2,3 To date, approximately 120 cases of CDS have been reported around the world. The syndrome is caused by the mutation of the abhydrolase domain containing 5 (ABHD5) gene, also called the comparative gene identification-58 (CGI-58) gene, located on the 3p21 chromosome. The product of this gene is a member of the large α/β-hydrolase family of proteins with 349 amino acids and a molecular mass of approximately 39 kD that enables the activation of adipose triglyceride lipase (ATGL) which plays and important role in intracellular lipolysis. Mutation of the ABHD5 gene results in the total or partial inactivation of the ATGL enzyme that enables the release of fatty acids (FAs) from the intracellular triacylglycerol (TG) stores of adipose and nonadiposetissues. This leads to insufficient FA mobilization within the cell, which in turn causes the accumulation of intracytoplasmic lipid droplets that contain TG. 4,5 These lipid droplets have been observed in hepatocytes, intestinal mucosa, blood, bone marrow, skin fibroblasts, myocytes, central nervous system cells and many other types of cells. CDS is associated with a multitude of clinical symptoms, the most prominent of which are non-bullous congenital ichthyosiform erythroderma and liver steatosis, whereas others include splenomegaly, myopathy, sensorineural hearing loss, nystagmus, ataxia, cataract, mental retardation and growth retardation. These clinical symptoms tend to vary according to the patients' ethnic origin and the different mutations they have. The diagnosis is based on the presence of ichthyosis and identification of lipid droplets in granulocytes (Jordan's anomaly) in peripheral blood smear. 6,7

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Dorfman–Chanarin Syndrome: A Case Report

Cited by 8 publications

References 3 publications

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

Chanarin-Dorfman syndrome

Chanarin‐Dorfman Syndrome: A comprehensive review

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