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Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of t...

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Autores principales: Chamli, Amal, Zaouak, Anissa, Frioui, Refka, Fenniche, Samy, Hammami, Houda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984865/
https://www.ncbi.nlm.nih.gov/pubmed/36879675
http://dx.doi.org/10.1002/ccr3.7024
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author Chamli, Amal
Zaouak, Anissa
Frioui, Refka
Fenniche, Samy
Hammami, Houda
author_facet Chamli, Amal
Zaouak, Anissa
Frioui, Refka
Fenniche, Samy
Hammami, Houda
author_sort Chamli, Amal
collection PubMed
description Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment.
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spelling pubmed-99848652023-03-05 Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity Chamli, Amal Zaouak, Anissa Frioui, Refka Fenniche, Samy Hammami, Houda Clin Case Rep Case Report Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment. John Wiley and Sons Inc. 2023-03-04 /pmc/articles/PMC9984865/ /pubmed/36879675 http://dx.doi.org/10.1002/ccr3.7024 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Chamli, Amal
Zaouak, Anissa
Frioui, Refka
Fenniche, Samy
Hammami, Houda
Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title_full Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title_fullStr Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title_full_unstemmed Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title_short Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity
title_sort familial homozygous hypercholesterolemia with arcus cornea and xanthomas: a rare but serious entity
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984865/
https://www.ncbi.nlm.nih.gov/pubmed/36879675
http://dx.doi.org/10.1002/ccr3.7024
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