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Barraquer–Simons syndrome: a rare form of acquired lipodystrophy
BACKGROUND: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer–Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797229/ https://www.ncbi.nlm.nih.gov/pubmed/26987365 http://dx.doi.org/10.1186/s13104-016-1975-9 |
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author | Oliveira, Joana Freitas, Paula Lau, Eva Carvalho, Davide |
author_facet | Oliveira, Joana Freitas, Paula Lau, Eva Carvalho, Davide |
author_sort | Oliveira, Joana |
collection | PubMed |
description | BACKGROUND: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer–Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part of the body. Insulin resistance and metabolic complications are less common than with other lipodystrophy subtypes. Patients usually have decreased serum complement-component 3 levels, associated with complement activation by the alternative pathway, which may indicate the presence of renal involvement. CASE PRESENTATION: The authors report a case of a 31-year-old woman with progressive loss of subcutaneous fat, limited to the face, neck and thorax. She presented no severe metabolic complications, neither signs of insulin resistance. Laboratory tests revealed mild dyslipidemia, and low serum levels of complement-component 3. Clinical and biochemical characteristics were consistent with the diagnosis of Barraquer–Simons syndrome. CONCLUSION: The present case illustrates the importance of recognizing the clinical features of this lipodystrophic syndrome, which may present potentially severe consequences and psychological distress. A brief overview is made, addressing the clinical signs of the disease, its course, and how to manage it. |
format | Online Article Text |
id | pubmed-4797229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-47972292016-03-19 Barraquer–Simons syndrome: a rare form of acquired lipodystrophy Oliveira, Joana Freitas, Paula Lau, Eva Carvalho, Davide BMC Res Notes Case Report BACKGROUND: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer–Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part of the body. Insulin resistance and metabolic complications are less common than with other lipodystrophy subtypes. Patients usually have decreased serum complement-component 3 levels, associated with complement activation by the alternative pathway, which may indicate the presence of renal involvement. CASE PRESENTATION: The authors report a case of a 31-year-old woman with progressive loss of subcutaneous fat, limited to the face, neck and thorax. She presented no severe metabolic complications, neither signs of insulin resistance. Laboratory tests revealed mild dyslipidemia, and low serum levels of complement-component 3. Clinical and biochemical characteristics were consistent with the diagnosis of Barraquer–Simons syndrome. CONCLUSION: The present case illustrates the importance of recognizing the clinical features of this lipodystrophic syndrome, which may present potentially severe consequences and psychological distress. A brief overview is made, addressing the clinical signs of the disease, its course, and how to manage it. BioMed Central 2016-03-18 /pmc/articles/PMC4797229/ /pubmed/26987365 http://dx.doi.org/10.1186/s13104-016-1975-9 Text en © Oliveira et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Oliveira, Joana Freitas, Paula Lau, Eva Carvalho, Davide Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title | Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title_full | Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title_fullStr | Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title_full_unstemmed | Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title_short | Barraquer–Simons syndrome: a rare form of acquired lipodystrophy |
title_sort | barraquer–simons syndrome: a rare form of acquired lipodystrophy |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797229/ https://www.ncbi.nlm.nih.gov/pubmed/26987365 http://dx.doi.org/10.1186/s13104-016-1975-9 |
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