Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report

Bañuls, José; Betlloch, Isabel; Botella, Rafael; Sevila, Amparo; Morell, Ana; Román, P.

doi:10.1111/j.1365-2230.1994.tb02705.x

Cited by 12 publications

(6 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Considering that the most important site for the pathogenesis of corni-¢cation disorders is not the basal layer but the upper spinous and the granular layers of the epidermis, we hypothesized that lipid vacuoles in the basal cells are not important in the pathogenesis of ichthyosis in DCS with CGI-58 mutations. In all previous reports, DCS patients showed ichthyosis, but the lipid vacuoles in the basal epidermal layer were not always seen (Dorfman et al, 1974;Chanarin et al, 1975;Miranda et al, 1979;Elias and Williams, 1985;Srebrnik et al, 1987;Venencie et al, 1988;Williams et al, 1988;Banuls et al, 1994;Kaassis et al, 1998;Wollenberg et al, 2000;Pena-Penabad et al, 2001). Srebrnik et al (1998) suggested that large lipid vacuoles were not correlated with DCS clinical severity.…”

Section: Discussionmentioning

confidence: 91%

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

Akiyama

Sawamura

Nomura

et al. 2003

Journal of Investigative Dermatology

View full text Add to dashboard Cite

Dorfman-Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs. Recently, CGI-58 mutations were identified as the cause of Dorfman-Chanarin syndrome. The physiologic roles of the CGI-58 protein and the pathomechanisms of Dorfman-Chanarin syndrome still remain to be clarified, however. The patient, a 16-y-old male, demonstrated ichthyosis, small ears, lipid vacuoles in his leukocytes, liver dysfunction, and mental retardation. Sequencing of CGI-58 revealed that the patient was homozygous for a novel nonsense mutation R184X, in exon 4. The putative truncated protein was 52.4% of the length of the normal CGI-58 polypeptide and lacked approximately 60% of the lipid binding region, 66.4% of the alpha/beta hydrolase folding segment of the polypeptide, and two of the CGI-58 catalytic triads, resulting in a significant loss of lipase/esterase/thioesterase activity. Electron microscopy revealed a large number of abnormal lamellar granules, a disturbed intercellular lamellar structure, and lipid vacuoles in the epidermis. These results suggested that CGI-58 protein is involved in the lipid metabolism of lamellar granules and that defective lipid production in lamellar granules caused by a CGI-58 protein deficiency is involved in the pathogenesis of ichthyosis in Dorfman-Chanarin syndrome.

show abstract

Section: Discussionmentioning

confidence: 91%

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

Akiyama

Sawamura

Nomura

et al. 2003

Journal of Investigative Dermatology

View full text Add to dashboard Cite

show abstract

“…Alopecia was a rare finding (only two cases), being described as patches of cicatricial alopecia; 8,12 total alopecia of the scalp was observed in our patient. Nails were normal in most cases, but thickening, 8,9 pitting and longitudinal striations, 8 yellow‐black discoloration, 9 pitting and onychoschizia 13 have been described. Transverse leuconychia, noticed in our patient, has not previously been reported.…”

Section: Clinical Features In Dorfman–chanarin Syndromementioning

confidence: 99%

Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features

Peña-Penabad¹,

Almagro²,

Martínez³

et al. 2001

Br J Dermatol

View full text Add to dashboard Cite

“…This syndrome is associated with multiple organ involvement. 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 .…”

Section: Discussionmentioning

confidence: 99%

“…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

View full text Add to dashboard Cite

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

show abstract

Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report

Abstract: We describe the case of a woman from a small town in the south of Spain, with consanguineous parents, who presented with the complete syndrome. The main clinicopathological characteristics are discussed.

Cited by 12 publications

References 14 publications

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome

Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features

Chanarin‐Dorfman Syndrome: A comprehensive review

Contact Info

Product

Resources

About