Ichthyosiform dermatosis with systemic lipidosis

Dorfman, M. L.

doi:10.1001/archderm.110.2.261

Cited by 48 publications

(30 citation statements)

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“…Not surprisingly, NLSD patients present with a wide variety of clinical manifestations, including myopathy, hepatomegaly, variable ophthalmologic symptoms (cataract, nystagmus, strabismus), neurosensory hearing loss, mental retardation, short stature, microcephaly, and intestinal involvement [31][32][33].…”

Section: Neutral Lipid Storage Diseases With Ichthyosis and Myopathymentioning

confidence: 99%

Lipid Storage Myopathy

Liang

Nishino

2010

Curr Neurol Neurosci Rep

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Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid dysmetabolism. Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. Making an accurate diagnosis, by specific laboratory tests including genetic analyses, is important for LSM as some of the patients are treatable: individuals with PCD show dramatic improvement with high-dose oral L-carnitine supplementation and increasing evidence indicates that MADD due to ETFDH mutations is riboflavin responsive.

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Section: Neutral Lipid Storage Diseases With Ichthyosis and Myopathymentioning

confidence: 99%

Lipid Storage Myopathy

Liang

Nishino

2010

Curr Neurol Neurosci Rep

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“…Four different ''classic'' lipid storage disorders have been characterized genetically: multiple acyl-CoA dehydrogenase deficiency (MADD; ETFA, ETFB, ETFDH) [3,4], primary carnitine transporter deficiency (SLC22A5) [5], neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome; CDS; NLSD-I; CGI-58) [6][7][8][9][10], and neutral lipid storage myopathy (NLSD-M; PNPLA2) [11].…”

Section: Introductionmentioning

confidence: 99%

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

et al. 2011

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Neutral lipid storage disease is caused by mutations in the CGI-58 or the PNPLA2 genes. Lipid storage can be detected in various cell types including blood granulocytes. While CGI-58 mutations are associated with Chanarin-Dorfman syndrome, a condition characterized by lipid storage and skin involvement (ichthyosis), mutations in the patatin-like phospholipase domain-containing protein 2 gene (PNPLA2) were reported with skeletal and cardiac muscle disease only. We describe clinical, myopathological, magnetic resonance imaging (MRI), and genetic findings of six patients carrying different recessive PNPLA2 mutations. Pulse-chase labeling of control and patient cells with supplementation of clenbuterol, salmeterol, and dexamethasone was performed in vitro. The patients share a recognizable phenotype with prominent shoulder girdle weakness and mild pelvic girdle and distal muscle weakness, with highly elevated creatine kinase (CK) and cardiomyopathy developing at later stages. Muscle histology invariably reveals massive accumulation of lipid droplets. New muscle or whole-body MRI techniques may assist diagnosis and may become a useful tool to quantify intramuscular lipid storage. Four novel and two previously reported mutations were detected, affecting different parts of the PNPLA2 gene. Activation of hormone-sensitive lipase by beta-adrenergic substances such as clenbuterol appears to bypass the enzymatic block in PNPLA2-deficient patient cells in vitro. PNPLA2 deficiency is a slowly progressive myopathy with onset around the third decade. Cardiac involvement is relatively common at a later stage. Muscle MRI may detect increased lipid in a characteristic distribution, which could be used for monitoring disease progression. Beta-adrenergic agents may be beneficial in improving triacylglycerol breakdown in patients with PNPLA2 mutations.

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“…Dorfman-Chanarin syndrome (DCS, MIM275630), also referred to as neutral lipid storage disease with ichthyosis (NLSDI), is a rare autosomal recessive disorder, in which an excess of triacylglycerols (TG) accumulates in various cells [1][2][3]. DCS is characterized by nonbullous congenital ichthyosiform erythroderma associated with the presence of cytoplasmic neutral lipid droplets in keratinocytes, as well as a variety of cells in the body including peripheral leukocytes (Jordans' anomaly) [4] and liver cells [5].…”

Section: Introductionmentioning

confidence: 99%