Chanarin–Dorfman syndrome with eccrine gland vacuolation: a case report

Pahwa, Manish; Kar, Rakhee; Singh, Avninder; Goel, Aditya; Ramesh, V.; Jain, R. K.

doi:10.1111/j.1365-4632.2008.03793.x

Cited by 5 publications

(4 citation statements)

References 11 publications

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“…Emollients are useful for local treatment [13]. Kakourou et al [14] prescribed a low-fat diet to their CDS patient and observed improvement in skin and liver manifestations during 1 year of the therapy.…”

Section: Discussionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Gençpınar¹,

Makay²,

Yüzbaşıoğlu³

et al. 2013

tjh

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Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.Conflict of interest:None declared.

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Section: Discussionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Gençpınar¹,

Makay²,

Yüzbaşıoğlu³

et al. 2013

tjh

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“…Vacuolization has also been shown in other cells such as myocytes, hepatocytes, fibroblasts and keratinocytes. To our knowledge, only two previously reported cases were described to show vacuolization of the eccrine glands such as seen in our patient, and may be the cause of the hypohidrosis seen in such patients.…”

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confidence: 46%

Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

et al. 2019

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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 64–74 . In addition, clinical findings, such as microcephaly, cardiomyopathy, nystagmus, eclabion, rickets, renal eccrine gland and pancreatic involvement, are also observed in rare cases 75–80 . 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: Discussionmentioning

confidence: 99%

“…[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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Chanarin–Dorfman syndrome with eccrine gland vacuolation: a case report

Cited by 5 publications

References 11 publications

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

Chanarin‐Dorfman Syndrome: A comprehensive review

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