Value of Looking at Leukocytes in Every Case of Ichthyosis

Wolf, Ronni; A, Zaritzky; Pollak, Shlomo

doi:10.1159/000248570

Cited by 33 publications

(21 citation statements)

References 4 publications

(16 reference statements)

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“…Lipidladen leukocytes were confirmed in further clinical reports of NLSD [2–4]. Given the consistent presence of Jordans’ anomaly on an otherwise heterogeneous background of clinical phenotypes (e.g., variable degrees of ichthyosis, liver steatosis, hepatosplenomegaly, skeletal and cardiac myopathy, hearing loss, growth, and mental retardation) [5], Jordans’ anomaly was proposed as hallmark criterion for the diagnosis of NLSD [6]. In 2001 and 2007, mutations in CGI-58 (also termed α/β hydrolase domain-containing 5) and ATGL (also termed desnutrin or PNPLA2) were linked to NLSD with ichthyosis and NLSDM, respectively [7, 8].…”

Section: Introductionmentioning

confidence: 98%

Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis

Schlager¹,

Goeritzer²,

Jandl³

et al. 2015

Journal of Leukocyte Biology

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In humans, mutations in ATGL lead to TG accumulation in LDs of most tissues and cells, including peripheral blood leukocytes. This pathologic condition is called Jordans’ anomaly, in which functional consequences have not been investigated. In the present study, we tested the hypothesis that ATGL plays a role in leukocyte LD metabolism and immune cell function. Similar to humans with loss-of-function mutations in ATGL, we found that global and myeloid-specific Atgl−/− mice exhibit Jordans’ anomaly with increased abundance of intracellular TG-rich LDs in neutrophil granulocytes. In a model of inflammatory peritonitis, lipid accumulation was also observed in monocytes and macrophages but not in eosinophils or lymphocytes. Neutrophils from Atgl−/− mice showed enhanced immune responses in vitro, which were more prominent in cells from global compared with myeloid-specific Atgl−/− mice. Mechanistically, ATGL−/− as well as pharmacological inhibition of ATGL led to an impaired release of lipid mediators from neutrophils. These findings demonstrate that the release of lipid mediators is dependent on the liberation of precursor molecules from the TG-rich pool of LDs by ATGL. Our data provide mechanistic insights into Jordans’ anomaly in neutrophils and suggest that ATGL is a potent regulator of immune cell function and inflammatory diseases.

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Section: Introductionmentioning

confidence: 98%

Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis

Schlager¹,

Goeritzer²,

Jandl³

et al. 2015

Journal of Leukocyte Biology

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“…2 Similarly, our patient inspite of failing to demonstrate any fatty deposits in renal mesangium showed heavy proteinuria with clinical nephrosis, which makes nephrotic syndrome a new and rare presentation ( Table 1). 6 However, the possibility of being an incidental finding cannot be ruled out.…”

Section: Discussionmentioning

confidence: 64%

Chanarin-Dorfman Syndrome: A Case Report

Al-Qahtani

Salloum

2002

Ann Saudi Med

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FN Al-Qahtani, AA Salloum, Chanarin-Dorfman Syndrome: A Case Report. 2002; 22(5-6): [354][355] Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with skin manifestation in the form of congenital ichthyotic erythroderma.1 Demonstration of lipid vacuoles in neutrophils from peripheral blood smear in a patient with ichthyotic erythroderma leads to a correct diagnosis.2 Other organ systems such as CNS, liver, muscles, ears and eyes are frequently involved. We report a case of Chanarin-Dorfman syndrome which was picked up when a patient presented with nephrotic syndrome, which was an unusual presentation of DCS. To the best of our knowledge, this is the first case to be reported from Saudi Arabia. Case ReportA five-year-old Saudi girl, a known case of congenital ichthyosiform erythroderma (CIE), and a product of firstdegree cousins presented with progressive generalized body puffiness over a three-day period, and which was preceded by flu-like illness. She had a brother who was similarly affected. On physical examination, her BP was 148/82 mm Hg, torr >95th percentile. For age and sex, her weight was 16.9 kg (>10th percentile), and height was 96 cm(<5th percentile. There was generalized erythroderma with fine desquamating scales without flexural sparing, and facial tautness, periorbital edema with mild ectropion. The chest was clear to percussion and auscultation. CVS examination showed normal heart sounds with no murmur. The abdomen was distended with ascites and huge hepatomegaly (11 cm span), with normal intellectual, neurological, and ophthalmic examinations, and with no hearing abnormality. Note generalized scaling with mild erythroderma.

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“…Since the diagnosis of DCS may be easily made by leukocyte analysis, this should be routinely performed in all cases of ichthyosiform erythroderma. Electronic cell counters, frequently used for routine leukocyte analysis, are not suitable for the detection of lipid vacuoles, since the results could be false [2, 12]. …”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis is based on the demonstration of lipid vacuoles in granulocytes of a patient with ichthyosiform erythroderma [2, 3]. DCS is characterized by variable involvements of the liver, muscles and central nervous system, due to nonlysosomal errors in neutral lipid metabolism that lead to intracellular accumulation of triacylglycerol [4, 5].…”

Section: Introductionmentioning

confidence: 99%

Rickets with Dorfman-Chanarin Syndrome

Taşkın

Akarsu²,

Aygün³

et al. 2006

Acta Haematol

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Background: Dorfman-Chanarin syndrome is a rare, autosomal recessive, inherited, lipid storage disease. It is characterized by nonbullous congenital ichthyosiform erythroderma, leukocyte vacuoles and variable involvement of the liver, muscles and central nervous system, due to errors of triacylglycerol metabolism. To date only 32 cases of this syndrome have been described worldwide. Aims: To report the case of a boy with Dorfman-Chanarin syndrome with rickets. Case Report: A boy of Turkish origin was born of a nonconsanguineous marriage after an uncomplicated perinatal period. On examination the patient had failure to thrive, diffuse erythroderma and ichthyosis and clinical features suggesting rickets. A light-microscopic examination of peripheral smear revealed vacuolated leukocytes typical of Jordans’ anomaly. Lipid analysis showed an increase in triacylglycerol and very low density lipoprotein. A radiographic study of the wrist revealed rickets. Conclusion: The clinical progression in these patients ranges from mild to fatal. We believe that patients with ichthyosis should be evaluated bearing in mind the possibility of Dorfman-Chanarin syndrome. This may increase the number of reported Dorfman-Chanarin syndrome cases, and the pathogenesis and progression of the disease will become clearer.

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Value of Looking at Leukocytes in Every Case of Ichthyosis

Cited by 33 publications

References 4 publications

Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis

Adipose triglyceride lipase acts on neutrophil lipid droplets to regulate substrate availability for lipid mediator synthesis

Chanarin-Dorfman Syndrome: A Case Report

Rickets with Dorfman-Chanarin Syndrome

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