Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion

Elias, Peter M.

doi:10.1001/archderm.121.8.1000

Cited by 41 publications

(53 citation statements)

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“…TAG accumulation in cytosolic droplets in multiple tissues allows for the rapid clinical diagnosis of NLSDI by Oil Red O staining of frozen skin biopsies, which demonstrate diagnostic lipid droplets in both the epidermal basal layer and in appendageal epithelia (33), or by visual inspection of leukocytes on blood smears (33, 34) ( Table 2). 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).…”

Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

“…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%

“…Moreover, comparable cytosolic lipid droplets occur as a nonspecific response to toxic insults, as in many hyperplastic dermatoses (37)(38)(39)(40)(41). More pertinent instead to disease phenotype in NLSDI could be amorphous, lipid microinclusions that occur within epidermal LBs (33). These organelle contents are secreted, along with normal-appearing lamellar membranes, at the stratum granulosum (SG)/SC interface (33).…”

Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

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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%

Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

Section: Disorders Of Nonpolar Lipid Processingmentioning

confidence: 99%

See 1 more Smart Citation

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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“…It is characterized by non-bullous congenital ichthyosiform erythroderma, leukocyte vacuoles and variable, but often mild involvement of other organs, such as the liver, muscle and CNS, but not the kidney. [6][7][8] CDS is a neutral lipid intracellular and non-lysosomal storage disorder which probably results from defective fatty acid catabolism. This metabolic defect causes the appearance of non-membrane enclosed intra-cytoplasmic vacuoles.…”

Section: Discussionmentioning

confidence: 99%

“…The earliest report was in 1953 by Jordans, 10 followed by Rozenszajn et al in 1966 and by by Elias and Williams 7 , whose work attracted attention to this syndrome and subsequently led to its correct diagnosis. Our patient had CIE, leukocyte vacuoles with bone marrow, confirming the presence of storage disease with hepatomegaly which fit the criteria of DCS.…”

Section: Discussionmentioning

confidence: 99%

Chanarin-Dorfman Syndrome: A Case Report

Al-Qahtani

Salloum

2002

Ann Saudi Med

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FN Al-Qahtani, AA Salloum, Chanarin-Dorfman Syndrome: A Case Report. 2002; 22(5-6): [354][355] Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with skin manifestation in the form of congenital ichthyotic erythroderma.1 Demonstration of lipid vacuoles in neutrophils from peripheral blood smear in a patient with ichthyotic erythroderma leads to a correct diagnosis.2 Other organ systems such as CNS, liver, muscles, ears and eyes are frequently involved. We report a case of Chanarin-Dorfman syndrome which was picked up when a patient presented with nephrotic syndrome, which was an unusual presentation of DCS. To the best of our knowledge, this is the first case to be reported from Saudi Arabia. Case ReportA five-year-old Saudi girl, a known case of congenital ichthyosiform erythroderma (CIE), and a product of firstdegree cousins presented with progressive generalized body puffiness over a three-day period, and which was preceded by flu-like illness. She had a brother who was similarly affected. On physical examination, her BP was 148/82 mm Hg, torr >95th percentile. For age and sex, her weight was 16.9 kg (>10th percentile), and height was 96 cm(<5th percentile. There was generalized erythroderma with fine desquamating scales without flexural sparing, and facial tautness, periorbital edema with mild ectropion. The chest was clear to percussion and auscultation. CVS examination showed normal heart sounds with no murmur. The abdomen was distended with ascites and huge hepatomegaly (11 cm span), with normal intellectual, neurological, and ophthalmic examinations, and with no hearing abnormality. Note generalized scaling with mild erythroderma.

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Altered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome

Fartasch¹,

Williams²,

Elias³

1999

Arch Dermatol

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Background:The infant with Netherton syndrome (NS) typically displays a generalized erythroderma covered by fine, translucent scales, which can be difficult to distinguish clinically from erythrodermic psoriasis, nonbullous congenital ichthyosiform erythroderma, or other infantile erythrodermas. Some infants with NS develop progressive hypernatremic dehydration, failure to thrive, and enteropathy. Such complications can be fatal. Diagnosis is typically delayed until the appearance of a pathognomonic hair shaft anomaly, trichorrhexis invaginata (bamboo hair). To facilitate the early diagnosis of NS, we obtained biopsy specimens from 7 patients with erythrodermic NS and compared their morphologic findings to those of 3 patients with erythrodermic psoriasis and 2 with congenital ichthyosiform erythroderma. Biopsy specimens were processed for light and electron microscopy using postfixation with osmium tetroxide and ruthenium tetroxide.Observation: In NS, and often in congenital ichthyosiform erythroderma and erythrodermic psoriasis, the stra-

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Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion

Cited by 41 publications

References 1 publication

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

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

Chanarin-Dorfman Syndrome: A Case Report

Altered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome

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