Intertriginous xanthomata in type 2 hyperbetalipoproteinemia

Elias, P.

doi:10.1001/archderm.107.5.761

Cited by 7 publications

(3 citation statements)

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“…Very rarely, intertriginous xanthomas that manifest as flat or slightly raised yellow dermal plaques with corrugated surfaces are seen in the finger webs, axillae, buttocks, antecubital, and popliteal fossae. These intertriginous xanthomas are pathognomonic of FH (5)(6)(7). Coronary atherosclerosis usually develops before the teenage years (1).…”

Section: Discussionmentioning

confidence: 99%

Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature

Sethuraman¹,

Sugandhan²,

Sharma

et al. 2007

Pediatric Dermatology

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Familial homozygous hypercholesterolemia is a rare autosomal dominant, metabolic disorder caused by mutation in the gene, which encodes the synthesis of low-density lipoprotein receptors and is characterized by increased serum low-density lipoprotein cholesterol. Multiple types of xanthomas occur, such as tendinous, tuberous, xanthelasma, and sub-periosteal. Intertriginous xanthomas are rare but if present are pathognomonic of this disorder. We report two children with familial homozygous hypercholesterolemia who had multiple xanthomas including the intertriginous variety.

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Section: Discussionmentioning

confidence: 99%

Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature

Sethuraman¹,

Sugandhan²,

Sharma

et al. 2007

Pediatric Dermatology

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“…They are occasionally misdiagnosed as rheumatoid nodules, gouty tophi, nodular tenosynovitis, dermatofibromas, calcinosis cutis, keratogenous cysts, or lipomas (23). Although they are commonly slow growing, several cases in the literature report tendinous xanthomas in children below 15 years of age (24)(25)(26)(27)(28). with the youngest being 2 years old (27,28).…”

Section: Type IImentioning

confidence: 99%

Xanthomas and the Inherited Hyperlipoproteinemias in Children and Adolescents

Maher-Wiese

Marmer

Grant‐Kels

1990

Pediatric Dermatology

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Early recognition of the hyperlipoproteinemias is a crucial element in preventing premature coronary artery disease. Xanthomas provide a cutaneous marker of the silent, underlying pathology. Identifying them, and understanding their relation to the inherited hyperlipoproteinemias may facilitate early diagnosis of hyperlipoproteinemias in pediatric patients. The dermatologist plays an important role in identifying these lesions and in subsequently facilitating prompt referral and treatment.

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“…The xanthomatous lesions in heterozygotes develop between the ages of 20 and 40 (17). In a very few patients, xanthomas have also been described in intertriginous areas (18). ASCVD develops in heterozygotes in the third to fifth decade of life (15).…”

Section: Elevated Ldl Levelsmentioning

confidence: 99%

Hyperlipoproteinaemia and Xanthomatosis as a Model of Cholesterol Ester Accumulation

Vermeer

1986

The Journal of Dermatology

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A local event which occurs after damage of a blood vessel can be the start of cellular cholesterol ester accumulation. Thrombocytes and macrophages will adhere to the endothelial wall. Subsequently lipoproteins and macrophages permeate this endothelial wall. The perivascularly arranged macrophages will internalize the “modified lipoproteins” and eventually cholesterol ester accumulation will take place. This cholesterol ester accumulation can also occur in smooth muscle cells. The reversibility of the accumulation depends on the lipoprotein levels and on the physico‐chemical characteristics of the accumulated cholesterol (esters). This phenomenon takes place in the formation of xanthomas as well as in atherogenesis.

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Intertriginous xanthomata in type 2 hyperbetalipoproteinemia

Cited by 7 publications

References 0 publications

Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature

Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature

Xanthomas and the Inherited Hyperlipoproteinemias in Children and Adolescents

Hyperlipoproteinaemia and Xanthomatosis as a Model of Cholesterol Ester Accumulation

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