Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia

Antonio Mastrolorenzo; Antonietta DErrico; Piera Pierotti; Margherita Vannucchi; Stefano Giannini; Fiammetta Fossi

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Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia

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Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis.

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来源
《世界皮肤病学杂志》 |2017年第4期|59-65|共7页
作者
Antonio Mastrolorenzo; Antonietta DErrico; Piera Pierotti; Margherita Vannucchi; Stefano Giannini; Fiammetta Fossi;
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作者单位

Department of Surgery and Translational Medicine;

Section of Dermatology;

University of Florence;

Public Hospital Piero Palagi;

Azienda Sanitaria di Firenze;

Department of Infectious Diseases;

Ospedale SM Annunziata;

Histopathology and Molecular Diagnostics Institute;

Careggi University Hospital;

Diabetes and Metabolic Disease Agency;

Careggi University Hospital;

SODc of Transfusion Medicine and Cell Therapy;

Careggi University Hospital;

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原文格式 PDF
正文语种 chi
中图分类医药、卫生;
关键词
Intertriginous; xanthomas; Homoxygous; Familial; Hypercholesterolemia; Familial; hypercholesterolemia; Dyslipidemia; Xanthomas;

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Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia

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