Ichthyosis and Neutral Lipid Storage Disease (Dorfman‐Chanarin Syndrome)

Venencie, Pierre Y.; Armengaud, Didier; Földes, C.; Vieillefond, Annick; Coulombel, Laure; Hadchouel, M

doi:10.1111/j.1525-1470.1988.tb01165.x

Cited by 15 publications

(7 citation statements)

References 19 publications

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“…DCS comprises nonbullous congenital ichthyosis, leucocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system [Venencie et al, 1988].…”

Section: Discussionmentioning

confidence: 99%

Dorfman–Chanarin syndrome in Egypt

EI-Kabbany

Rashad

Tareef

et al. 2003

American J of Med Genetics Pt A

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“…DCS comprises nonbullous congenital ichthyosis, leucocyte vacuoles, and variable involvement of the liver, muscles, eyes, and central nervous system [Venencie et al, 1988].…”

Section: Discussionmentioning

confidence: 99%

Dorfman–Chanarin syndrome in Egypt

EI-Kabbany

Rashad

Tareef

et al. 2003

American J of Med Genetics Pt A

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“…NBIE is also a feature of Dorfman-Chanarin syndrome, an autosomal recessive neutral lipid storage disorder involving various organ systems, including the eyes [Venencie et al, 1988]. Diagnosis is by demonstration of cytoplasmic lipid vacuoles within most granulocytes and monocytes.…”

Section: Discussionmentioning

confidence: 98%

Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa

Rajagopalan

2001

Am. J. Med. Genet.

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Non-bullous ichthyosiform erythroderma (NBIE) is an autosomal recessive condition characterized by generalized erythema and scaling. Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome.

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“…Durdu et al also observed lipid droplets in the cytoplasm of keratinocytes following a Tzanck smear test 56 . In addition, Arora et al noted that although lipid droplets were absent in the peripheral blood and bone marrow cells of their male patient, an electron microscope examination of the skin biopsy revealed lipid droplets 57–62 . Lipid droplets in cells play an important role in energy homeostasis.…”

Section: Discussionmentioning

confidence: 99%

“…Verma et al [40] M 17 India yes fatty liver c.752A > C Nakhaei et al [41] 56 In addition, Arora et al noted that although lipid droplets were absent in the peripheral blood and bone marrow cells of their male patient, an electron microscope examination of the skin biopsy revealed lipid droplets. [57][58][59][60][61][62] Lipid droplets in cells play an important role in energy homeostasis. Theses vacuoles store excess energy in the form of TG and in the event of an energy deficit, these TGs will be hydrolysed to release free FAs and glycerol.…”

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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Ichthyosis and Neutral Lipid Storage Disease (Dorfman‐Chanarin Syndrome)

Cited by 15 publications

References 19 publications

Dorfman–Chanarin syndrome in Egypt

Dorfman–Chanarin syndrome in Egypt

Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa

Chanarin‐Dorfman Syndrome: A comprehensive review

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