The curious case of the orange coloured tonsils

Ravesloot, Madeline J. L.; Bril, Herman; Braamskamp, Marjet J. A. M.; Wiegman, Albert; Chung, Rosa

doi:10.1016/j.ijporl.2014.09.011

Cited by 6 publications

(5 citation statements)

References 12 publications

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“…105 Pictures O and P were reproduced from Santos and colleagues, 79 by permission of Elsevier. Pictures S and T were reproduced from Ravesloot and colleagues, 106 by permission of Elsevier. All other images were from the authors' own personal collections.…”

Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Hegele

Borén

Ginsberg

et al. 2020

The Lancet Diabetes & Endocrinology

145

101

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Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of quality information regarding the prevalence and outcomes of these conditions. Collaborative registries are needed to improve health policy for the care of patients with rare dyslipidaemias.

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Section: Clinical Presentation and Diagnosismentioning

confidence: 99%

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Hegele

Borén

Ginsberg

et al. 2020

The Lancet Diabetes & Endocrinology

145

101

View full text Add to dashboard Cite

show abstract

“…Taurodontism describes a dental anomaly which results in enlargement of the pulp chamber vertically at the T A B L E 1 Dental features commonly found in constituent inherited metabolic disease. 4,5,7,17,25,43,51,52,58,62,66,69,[76][77][78][79][80][81][82] expense of the roots and can be seen in glycogen storage disorders (GSD), various mucopolysaccharidosis and multiple sulfatase deficiency. A cross sectional study of 14 MPS patients (mixed diagnoses) showed taurodontism in 57%, 22 whereas taurodontism in GSD is limited to single case reports and case series.…”

Section: Dental Anomaliesmentioning

confidence: 99%

“…Deposition in the pharyngeal tonsils presents as a yellow-orange discolouration with associated hypertrophy and lobulation and may be the first clinical manifestation of the disease in paediatric patients. 58,59 Associated presenting complaints may include recurrent tonsillitis. The orange tonsils are almost pathognomonic of the syndrome, meaning that dentists and oral and maxillofacial surgeons alike have an indispensable role in diagnosis.…”

Section: Tangier Diseasementioning

confidence: 99%

“…Laboratory testing in patients with Tangier disease indicates an abnormal plasma lipoprotein profile and a near absence of plasma high density lipoprotein cholesterol (HDL‐C) and apolipoprotein A‐1. Consequently, cholesteryl esters accumulate throughout multiple bodily systems 57 , 58 including the tonsils. Deposition in the pharyngeal tonsils presents as a yellow‐orange discolouration with associated hypertrophy and lobulation and may be the first clinical manifestation of the disease in paediatric patients 58,59 .…”

Section: Introductionmentioning

confidence: 99%

“…Consequently, cholesteryl esters accumulate throughout multiple bodily systems 57 , 58 including the tonsils. Deposition in the pharyngeal tonsils presents as a yellow‐orange discolouration with associated hypertrophy and lobulation and may be the first clinical manifestation of the disease in paediatric patients 58,59 . Associated presenting complaints may include recurrent tonsillitis.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Inborn errors of metabolism and their impact in paediatric dentistry

Hirst

Chakrapani

Mubeen

2022

J of Inher Metab Disea

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The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by‐products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

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Inborn Errors of Metabolism

Paller

Mancini

2016

Hurwitz Clinical Pediatric Dermatology

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The curious case of the orange coloured tonsils

Cited by 6 publications

References 12 publications

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Inborn errors of metabolism and their impact in paediatric dentistry

Inborn Errors of Metabolism

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