Severe Oily Ichthyosis in Monozygotic Twins Mimicking Chanarin-Dorfman Syndrome but Not Associated With a Mutation of the CGI58 Gene

Solomon, Crina Cristina; Bernier, Lise; Germain, Lucie; Dufour, Robert L.; Davignon, Jean

doi:10.1001/archderm.142.3.402

Cited by 6 publications

(3 citation statements)

References 5 publications

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“…Although the ichthyosiform phenotype in NLSDI is nondiagnostic, it most closely resembles the nonbullous congenital ichthyosiform erythroderma (CIE) variant of autosomal recessive congenital ichthyosis (ARCI; see below) (33,35). However, NLSDI patients also often experience pruritus, with or without atopic features (34,35), an erythrokeratoderma variabilis-like dermatosis (24), or a severe "oily" (seborrheic) type of ichthyosis (36).…”

Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Elias

Williams

Holleran

et al. 2008

Journal of Lipid Research

181

172

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Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

Elias

Williams

Holleran

et al. 2008

Journal of Lipid Research

181

172

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“…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

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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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