Eruptive Xanthoma and Hyperlipemia in Glycogen Storage Disease (Von Gierke's Disease)

Zakon, Samuel J.

doi:10.1001/archderm.1953.01540020024005

Cited by 13 publications

(3 citation statements)

References 4 publications

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“…53,54 Eruptive xanthomata may appear on the extensor surfaces of the extremities and on the buttocks. 55 These findings are becoming less common with increased awareness and earlier diagnosis.…”

Section: Genetics In Medicinementioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

354

554

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Section: Genetics In Medicinementioning

confidence: 99%

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Kishnani

Austin

Abdenur

et al. 2014

Genetics in Medicine

354

554

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“…As mentioned in the introduction, it is well known that many liver and bile duct disturbances can engender secondary xanthomatosis. This phenomenon has been reported in liver glycogenosis (19), toxic hepatitis (6), congenital dysplasia of the interlobar bile ducts (2, 5, 8, l l ) , protracted bile stasis caused by extrahepatic occlusion of varied etiology (3), and in primary biliary cirrhosis (11, 15, 16). These conditions have the following common traits: a more or less chronic bile stasis serum lipids which are demonstrably elevated, and liver function tests which remain normal for a long time.…”

Section: The Diagnosis Of Acute Viral Hepatitismentioning

confidence: 69%

Icterus and Xanthomatosis

SVENDSEN

1959

Acta Paediatrica

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Summary The clinical course of a two and a half year old boy with icterus, hepatomegaly, xanthomatosis and marked elevation of the serum lipids is described. In the process this disease, these clinical and biochemical signs slowly disappeared and the patient seems to have regained complete health. The diagnostic problems are discussed. It is concluded that the patient suffered from a primary liver disease, most likely viral hepatitis of the cholangitic type, with development of secondary xan thomatosis.

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“…In diabetic patients unresponsive to insulin, an acquired lipoprotein lipase deficiency may develop [ 8 ]. Rare syndromes associated with eruptive xanthomas are the Berardinelli-Seip syndrome [ 9 ], the von Gierke syndrome (glycogen storage disease type I) [ 10 ], or the primary lipoprotein-lipase deficiency [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Eruptive Xanthomas – Two Case Reports With Distinct Features

Wollina¹,

Koch²,

Hansel³

et al. 2018

Open Access Maced J Med Sci

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BACKGROUND:Eruptive xanthomas are rare and often asymptomatic. On the other hand, these cutaneous lesions are a red flag for serious underlying metabolic disorders that demand an early diagnosis to prevent morbidity and mortality.CASE REPORT:We report on two male patients, aged 23 and 27 years, who presented with eruptive xanthomas. Clinical, histological and laboratory investigations disclosed a metabolic syndrome in the younger patient and an alcohol-induced chylomicronemia in the elder one. Two types of macromorphology of cutaneous lesions were observed. Treatment was tailored according to underlying pathologies and resulted in significant improvement of the metabolic parameters and improvement of skin lesions.CONCLUSION:Dermatologists should be aware of the diagnostic importance of eruptive xanthomas for serious metabolic disorders.

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Eruptive Xanthoma and Hyperlipemia in Glycogen Storage Disease (Von Gierke's Disease)

Cited by 13 publications

References 4 publications

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Icterus and Xanthomatosis

Eruptive Xanthomas – Two Case Reports With Distinct Features

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