Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia

Xanthomas are the subcutaneous lipid deposits which can be seen in normolipedemic or hyperlipidemic conditions. Xanathomas are usually of single type and presence of polymorphic xanthomas arise suspicion of dyslipidemia. We report a case of young girl presenting with pleomorphic xanthomas (Xanthelas...

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Main Authors: Shivangi Singh, Pankaj Kumar Tiwary, Anupama Singh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Clinical Dermatology Review
Subjects:
Online Access:http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2021;volume=5;issue=2;spage=229;epage=232;aulast=Singh
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author Shivangi Singh
Pankaj Kumar Tiwary
Anupama Singh
author_facet Shivangi Singh
Pankaj Kumar Tiwary
Anupama Singh
author_sort Shivangi Singh
collection DOAJ
description Xanthomas are the subcutaneous lipid deposits which can be seen in normolipedemic or hyperlipidemic conditions. Xanathomas are usually of single type and presence of polymorphic xanthomas arise suspicion of dyslipidemia. We report a case of young girl presenting with pleomorphic xanthomas (Xanthelasma palpebrarum, intertriginous Xanthomas, tendon Xanthomas, and eruptive xanthomas), hypothyroidism and multiple cardiac valvular involvements with very high serum total cholesterol and low-density lipoprotein along with deranged lipid profile in both parents. Pleomorphic xanthoma arouses a suspicion and helped in making a diagnosis of rare homozygous familial hypercholesterolemia.
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spelling doaj.art-4271e668cfe647ec8bb992ad0cb057d62022-12-21T21:27:01ZengWolters Kluwer Medknow PublicationsClinical Dermatology Review2542-551X2542-55282021-01-015222923210.4103/CDR.CDR_73_20Pleomorphic xanthomas: A clue to rare familial hypercholesterolemiaShivangi SinghPankaj Kumar TiwaryAnupama SinghXanthomas are the subcutaneous lipid deposits which can be seen in normolipedemic or hyperlipidemic conditions. Xanathomas are usually of single type and presence of polymorphic xanthomas arise suspicion of dyslipidemia. We report a case of young girl presenting with pleomorphic xanthomas (Xanthelasma palpebrarum, intertriginous Xanthomas, tendon Xanthomas, and eruptive xanthomas), hypothyroidism and multiple cardiac valvular involvements with very high serum total cholesterol and low-density lipoprotein along with deranged lipid profile in both parents. Pleomorphic xanthoma arouses a suspicion and helped in making a diagnosis of rare homozygous familial hypercholesterolemia.http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2021;volume=5;issue=2;spage=229;epage=232;aulast=Singhhypercholesterolemiaintertriginous xanthomapleomorphic xanthoma
spellingShingle Shivangi Singh
Pankaj Kumar Tiwary
Anupama Singh
Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
Clinical Dermatology Review
hypercholesterolemia
intertriginous xanthoma
pleomorphic xanthoma
title Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
title_full Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
title_fullStr Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
title_full_unstemmed Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
title_short Pleomorphic xanthomas: A clue to rare familial hypercholesterolemia
title_sort pleomorphic xanthomas a clue to rare familial hypercholesterolemia
topic hypercholesterolemia
intertriginous xanthoma
pleomorphic xanthoma
url http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2021;volume=5;issue=2;spage=229;epage=232;aulast=Singh
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AT pankajkumartiwary pleomorphicxanthomasacluetorarefamilialhypercholesterolemia
AT anupamasingh pleomorphicxanthomasacluetorarefamilialhypercholesterolemia