Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia  

作　　者：Antonio Mastrolorenzo Antonietta D'Errico Piera Pierotti Margherita Vannucchi Stefano Giannini Fiammetta Fossi 

机构地区：[1]Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence, Public Hospital Piero Palagi [2]Azienda Sanitaria di Firenze,Department of Infectious Diseases, Ospedale SM Annunziata [3]Histopathology and Molecular Diagnostics Institute, Careggi University Hospital [4]Diabetes and Metabolic Disease Agency, Careggi University Hospital [5]SODc of Transfusion Medicine and Cell Therapy, Careggi University Hospital

出　　处：《World Journal of Dermatology》2017年第4期59-65,共7页世界皮肤病学杂志

摘　　要：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.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.

关 键 词：Intertriginous XANTHOMAS Homoxygous FAMILIAL HYPERCHOLESTEROLEMIA FAMILIAL HYPERCHOLESTEROLEMIA DYSLIPIDEMIA XANTHOMAS 

分 类 号：R[医药卫生]