Mastrolorenzo A, D’Errico A, Pierotti P, Vannucchi M, Giannini S, Fossi F. Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia. World J Dermatol 2017; 6(4): 59-65 [DOI: 10.5314/wjd.v6.i4.59]
Corresponding Author of This Article
Antonio Mastrolorenzo, MD, Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence, Public Hospital Piero Palagi, Viale Michelangiolo 41, Florence 50125, Italy. amas@dada.it
Research Domain of This Article
Dermatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Antonio Mastrolorenzo, Antonietta D’Errico, Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence, Public Hospital Piero Palagi, Florence 50125, Italy
Piera Pierotti, Azienda Sanitaria di Firenze, Department of Infectious Diseases, Ospedale SM Annunziata, Florence 50012, Italy
Margherita Vannucchi, Histopathology and Molecular Diagnostics Institute, Careggi University Hospital, Florence 50134, Italy
Stefano Giannini, Diabetes and Metabolic Disease Agency, Careggi University Hospital, Florence 50134, Italy
Fiammetta Fossi, SODc of Transfusion Medicine and Cell Therapy, Careggi University Hospital, Florence 50134, Italy
Author contributions: Mastrolorenzo A and D’Errico A designed the report; Pierotti P performed the infectivology analyses; Mastrolorenzo A and D’Errico A collected the patient’s clinical data; Giannini S and Fossi F perfomed the vascular and metabolic analyses, dyspipidemia management and critical revision; Vannucchi M perfomed the histopathological analyses; Mastrolorenzo A and D’Errico A analyzed the data and wrote the paper.
Institutional review board statement: The Case Report was reviewed and approved by the (Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence) Institutional Review Board as required.
Informed consent statement: The patient involved in this case report has signed an informed consent allowing the use of pictures and information in an anonymous format.
Conflict-of-interest statement: The authors have no conflicts of interest and have not received any funding or financial consideration with respect to this article.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Antonio Mastrolorenzo, MD, Department of Surgery and Translational Medicine, Section of Dermatology, University of Florence, Public Hospital Piero Palagi, Viale Michelangiolo 41, Florence 50125, Italy. amas@dada.it
Telephone: +39-055-6939655 Fax: +39-055-6939598
Received: July 12, 2017 Peer-review started: July 20, 2017 First decision: August 7, 2017 Revised: August 26, 2017 Accepted: October 15, 2017 Article in press: October 16, 2017 Published online: November 2, 2017 Processing time: 123 Days and 16.8 Hours
ARTICLE HIGHLIGHTS
Case characteristics
Cutaneous xanthomas may or may not be present with lipid metabolic disorders, usually depending on the severity of the lipid abnormality.
Clinical diagnosis
Polymorphous cutaneous xanthomas in Homozygous Familial Hypercholesterolemia (HoFH).
Differential diagnosis
The presence of specific lesions represents a useful marker to properly identify a specific hyperlipidaemic disorder.
Laboratory diagnosis
High serum total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels with normal triglyceride levels.
Pathological diagnosis
Presence in the dermis of cholesterol crystalline aggregates surrounded by fibrosis and foamy cells.
Experiences and lessons
HoFH is a rare form of inherited dyslipidemia now estimated with a prevalence of one in 160000 to 300000.
Treatment
Atorvastatin, ezetimibe, low dose aspirin and LDL-C apheresis.
Related report
The presence, the clinical and dermatological features of multiple large xanthomas with a wide ranging distribution and above all, the rare pathognomonic intertriginous xanthomas, have been described as a dermatological marker of the HoFH.
