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1

Orrell, Richard W., Richard C. Peatfield, Carole E. Collins, et al. "Myopathy in acquired partial lipodystrophy." Clinical Neurology and Neurosurgery 97, no. 2 (1995): 181–86. http://dx.doi.org/10.1016/0303-8467(95)00021-b.

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2

Sorkina, Ekaterina L., and Anatoly N. Tiulpakov. "Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms." Obesity and metabolism 15, no. 1 (2018): 39–42. http://dx.doi.org/10.14341/omet2018139-42.

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Lipodystrophy syndromes form a heterogenous group of inherited or acquired rare disorders, characterized by total (generalized lipodystrophy) or partial fat loss (partial lipodystrophy), usually accompanied by different metabolic disorders. Based on etiology lipodystrophies can be inherited or acquired. As a result of a significant progress in molecular genetics 20 new genes, associated with different lipodystrophy syndromes, were discovered during the last 20 years. However according to the majority of researchers data mutations in these causative genes are not found in approximately half of
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3

Muto, Yusuke, Taku Fujimura, Aya Kakizaki, Kenichiro Tsuchiyama, Yoshiyuki Kusakari, and Setsuya Aiba. "Adult-Onset Acquired Partial Lipodystrophy Accompanied by Rheumatoid Arthritis." Case Reports in Dermatology 7, no. 1 (2015): 70–74. http://dx.doi.org/10.1159/000381844.

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Lipodystrophy is a group of metabolic disorders, possibly caused by autoimmune disease. In this report, we describe a case of adult-onset acquired partial lipodystrophy accompanied by rheumatoid arthritis without a family history. Interestingly, immunohistochemical staining revealed dense infiltration of IL-27-producing cells as well as MMP-7- and MMP-28-expressing cells, both of which have been reported to facilitate the development of autoimmune disease. Our present case might suggest possible mechanisms for acquired partial lipodystrophy.
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4

YORULMAZ, Ahu, Esra ARI, and Başak YALÇIN. "Acquired Partial Lipodystrophy with Autoimmune Thyroiditis." Turkiye Klinikleri Journal of Case Reports 26, no. 3 (2018): 156–60. http://dx.doi.org/10.5336/caserep.2018-59805.

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5

Broadhead, Geoffrey K., and Andrew Chang. "Choroidal Neovascularization in Acquired Partial Lipodystrophy." European Journal of Ophthalmology 23, no. 3 (2013): 439–41. http://dx.doi.org/10.5301/ejo.5000271.

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6

Patel, D., and B. Page. "Ocular complications in acquired partial lipodystrophy." Postgraduate Medical Journal 82, no. 973 (2006): 774. http://dx.doi.org/10.1136/pgmj.2006.047001.

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7

Dizdarer, Ceyhun, Sema Kalkan, Tugrul Ozcan, Demet Tumay, and Safiye Aktas. "Acquired Partial Lipodystrophy Associated With Hypocomplementemia." Laboratory Medicine 36, no. 9 (2005): 546–49. http://dx.doi.org/10.1309/0yu3xdv37gab08kh.

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8

Karunaratne, Yasiru Gehan, Marc Langbart, Jerry R. Greenfield, and James Southwell-Keely. "Large-volume liposuction in acquired partial lipodystrophy." Australasian Journal of Plastic Surgery 2, no. 2 (2019): 67–69. http://dx.doi.org/10.34239/ajops.v2n2.14.

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9

Alraddadi, Raghad Awad. "Overview on Acquired Partial Lipodystrophy: Review Article." Egyptian Journal of Hospital Medicine 91, no. 1 (2023): 4242–45. http://dx.doi.org/10.21608/ejhm.2023.296194.

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10

Garg, Abhimanyu. "Lipodystrophies: Genetic and Acquired Body Fat Disorders." Journal of Clinical Endocrinology & Metabolism 96, no. 11 (2011): 3313–25. http://dx.doi.org/10.1210/jc.2011-1159.

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Abstract Context: Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by selective loss of body fat and predisposition to insulin resistance. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Evidence Acquisition and Synthesis: Both original and review articles were found via PubMed search reporting on clinical features and management of various types of lipodystrophies and were integrated with the author's knowledge of the field. Conclusion: The autosomal reces
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11

Tandon, VishalR, Novy Gupte, Vivek Mahajan, et al. "Bleomycin containing chemotherapeutic regimen induced acquired partial lipodystrophy." Indian Journal of Dermatology 61, no. 1 (2016): 122. http://dx.doi.org/10.4103/0019-5154.174133.

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12

Jansen, J., L. Delaere, L. Spielberg, and A. Leys. "Long-term fundus changes in acquired partial lipodystrophy." Case Reports 2013, no. 18 1 (2013): bcr2013201218. http://dx.doi.org/10.1136/bcr-2013-201218.

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13

Garlapati, Komali, Anusha Rembers, Balaji Dara, and Mamatha Boringi. "Acquired partial lipodystrophy: An atypical presentation with therapeutic challenge." Journal of Indian Academy of Oral Medicine and Radiology 27, no. 3 (2015): 464. http://dx.doi.org/10.4103/0972-1363.170488.

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14

de Lucas-Collantes, Carmen, Jesús Pozo-Román, Cristina Aparicio-López, Inmaculada de Prada-Vicente, and Jesús Argente. "Acquired partial lipodystrophy (Barraquer–Simons syndrome) and IgA nephropathy." Nefrología (English Edition) 36, no. 5 (2016): 556–58. http://dx.doi.org/10.1016/j.nefroe.2016.11.001.

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15

Oswiecimska, Joanna, Katarzyna Ziora, Gabriela Geisler, and Antoni Dyduch. "Acquired partial lipodystrophy in an 11-year-old girl." Pediatrics International 50, no. 5 (2008): 714–16. http://dx.doi.org/10.1111/j.1442-200x.2008.02713.x.

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16

Akram, Sumera. "Lawrence Syndrome “acquired generalized lipodystrohy” with type 1 diabetes mellitus in 7 years boy of Bahawalpur." Pakistan Journal of Medical and Health Sciences 15, no. 12 (2021): 3351–52. http://dx.doi.org/10.53350/pjmhs2115123351.

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Lipodystrophy syndromes are rare disorders characterized by either generalized or partial lack of adipose tissue. They are congenital or acquired. These syndromes are associated with various metabolic and harmonal disorders leading to severe comorbidities including hypertriglyceridemia, diabetes mellitus, acanthosis nigricans, xanthomas, polycystic ovarian syndrome (POS) and non-alcoholic fatty liver disease. Keywords: Lawrence syndrome, lipodystrophy, diabetes mellitus
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17

Alhusain, Abdullah M., Osama A. Alrodiman, Faisal A. Alfaqeeh, and Sami I. Alissa. "Isolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review." Plastic and Reconstructive Surgery - Global Open 11, no. 8 (2023): e5222. http://dx.doi.org/10.1097/gox.0000000000005222.

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Summary: Lipoatrophy and lipodystrophy can often be used interchangeably in the literature. However, there are some key differences. Inflammation plays a preliminary role in subcutaneous adipose tissue (SAT) loss in lipoatrophy, whereas lipodystrophy does not. There are acquired causes of SAT loss such as injurious stimuli (ie, drug injections), panniculitis, or even microtrauma. Moreover, there are congenital causes such as familial partial lipodystrophy, which follows a more localized pathology, and congenital generalized lipodystrophy, which follow a diffuse spread of SAT loss. These etiolo
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18

Tews, Daniel, Ansgar Schulz, Christian Denzer, et al. "Lipodystrophy as a Late Effect after Stem Cell Transplantation." Journal of Clinical Medicine 10, no. 8 (2021): 1559. http://dx.doi.org/10.3390/jcm10081559.

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Survivors of childhood cancer are at high risk of developing metabolic diseases in adulthood. Recently, several patients developing partial lipodystrophy following hematopoietic stem cell transplantation (HSCT) have been described. In this review, we summarize the cases described so far and discuss potential underlying mechanisms of the disease. The findings suggest that HSCT-associated lipodystrophies may be seen as a novel form of acquired lipodystrophy.
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19

Capeau, J., J. Magré, O. Lascols, et al. "Diseases of adipose tissue: genetic and acquired lipodystrophies." Biochemical Society Transactions 33, no. 5 (2005): 1073–77. http://dx.doi.org/10.1042/bst0331073.

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Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin resistance leading to diabetic complications and increased cardiovascular and hepatic risk. Genetic forms of lipodystrophies are rare. Congenital generalized lipodystrophy or Berardinelli–Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylgly
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20

Reddy, PonnalaA, NamburiR Prasad, Bindu Menon, TS Karthik, Faizal Ahmed, and Mithun Chakravarthy. "Recurrent stroke as a presenting feature of acquired partial lipodystrophy." Indian Journal of Endocrinology and Metabolism 16, no. 8 (2012): 455. http://dx.doi.org/10.4103/2230-8210.104130.

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21

Taj, Farhana Tahseen, and Vyshak BM. "Acquired partial lipodystrophy: Barraquer –Simons syndrome: A rare case report." Our Dermatology Online 10, no. 1 (2019): 59–61. http://dx.doi.org/10.7241/ourd.20191.15.

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22

Caramaschi, P. "A case of acquired partial lipodystrophy associated with POEMS syndrome." Rheumatology 42, no. 3 (2003): 488–90. http://dx.doi.org/10.1093/rheumatology/keg112.

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23

Jeon, Faith Hyun Kyung, Michelle Griffin, Carole Frosdick, and Peter Edward Michael Butler. "Lipotransfer provides effective soft tissue replacement for acquired partial lipodystrophy." BMJ Case Reports 13, no. 5 (2020): e232601. http://dx.doi.org/10.1136/bcr-2019-232601.

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We present a 48-year-old female patient who presented with features consistent with acquired partial lipodystrophy (APL) also known as ‘Barraquer-Simons syndrome’. It is a rare disease characterised by a gradual and progressive onset of lipoatrophy limited to the face, neck, upper limbs, thorax and abdomen and sparing the lower extremities. The resultant physical appearance can have significant psychosocial sequelae, further compounded by misdiagnosis and delay in recognition and management. Treatment is aimed at surgical correction of soft tissue destruction. Autologous fat transfer is an est
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24

Migliaccio, Silvia, and Andrea Lenzi. "Skeletal alterations in lipodystrophy." International Journal of Bone Fragility 1, no. 3 (2021): 99–101. http://dx.doi.org/10.57582/ijbf.210103.099.

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Lipodystrophic syndromes are a heterogeneous group of congenital or acquired pathological clinical conditions that share, as a common feature, a generalized or partial lack of adipose tissue. Recent data in the literature suggest a correlation between adipose and skeletal tissues. Indeed, since both adipocytes and osteoblasts derive from a common mesenchymal cell, it has been hypothesized that alteration of one of the above two tissue types might involve cross-alteration in the other. This brief review analyzes data in the literature illustrating the potential presence of skeletal alterations
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25

Pradhan, Swetalina, and Kananbala Sahu. "Barraquer–Simons Lipodystrophy Syndrome in an Otherwise Normal Child: A Rare Case of Acquired Partial Lipodystrophy." Indian Journal of Paediatric Dermatology 22, no. 1 (2021): 87. http://dx.doi.org/10.4103/ijpd.ijpd_73_20.

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26

Frolkova, N. V., E. O. Koksharova, P. A. Vasiluev, O. M. Smirnova, and M. V. Shestakova. "Combination of familial partial lipodystrophy (Dunnigan-Cobberling syndrome) with pulmonary sarcoidosis." Diabetes mellitus 27, no. 3 (2024): 287–94. http://dx.doi.org/10.14341/dm13102.

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Lipodystrophy syndromes are a heterogeneous group of extremely rare, inherited or acquired disorders that are characterized by total or partial fat loss or its improper redistribution. The prevalence of lipodystrophies is estimated to be 1:1,000,000 in the population, with approximately 1,000 cases currently described in the literature.Sarcoidosis is a multisystem disease of unknown etiology that is characterized by the formation of non-caseating epithelioid granulomas in the affected tissues. Despite the large number of studies, the etiology and pathogenesis of sarcoidosis still remain unknow
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27

Kutbay, N. "An Unusual Case of Acquired Partial Lipodystrophy Presenting with Acanthosis Nigricans." Acta Endocrinologica (Bucharest) 15, no. 1 (2019): 129–30. http://dx.doi.org/10.4183/aeb.2019.129.

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28

Misra, Anoop, Aparna Peethambaram, and Abhimanyu Garg. "Clinical Features and Metabolic and Autoimmune Derangements in Acquired Partial Lipodystrophy." Medicine 83, no. 1 (2004): 18–34. http://dx.doi.org/10.1097/01.md.0000111061.69212.59.

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29

Walker, U. A. "Improvement of acquired partial lipodystrophy with rosiglitazone despite ongoing complement activation." Rheumatology 42, no. 2 (2003): 393–94. http://dx.doi.org/10.1093/rheumatology/keg076.

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30

García, Elena Hernández, Elena Borrego García, and Antonio Navas-Parejo Casado. "Development of C3 glomerulopathy in a patient with acquired partial lipodystrophy." Nefrología (English Edition) 40, no. 4 (2020): 486–87. http://dx.doi.org/10.1016/j.nefroe.2019.08.008.

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31

Yavuz, Sevgi, and Tahsin Oğuz Acartürk. "Acquired Partial Lipodystrophy with C3 Hypocomplementemia and Antiphospholipid and Anticardiolipin Antibodies." Pediatric Dermatology 27, no. 5 (2010): 504–8. http://dx.doi.org/10.1111/j.1525-1470.2010.01255.x.

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32

Gautam, Anjali, Purnachandra Badabagni, Surender Singh, Archana Mavoori, Pranavi Katike, and Sravya Himasri Bhamidipati. "Barraquer–Simons syndrome: A rare case of acquired partial lipodystrophy after pregnancy with diabetes mellitus." Cosmoderma 4 (November 7, 2024): 136. http://dx.doi.org/10.25259/csdm_150_2024.

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Barraquer–Simons syndrome (BSS) is an uncommon acquired partial lipodystrophy (APL) characterized by gradual, progressive loss of subcutaneous fat limited to the upper part of the body. It is a rare condition of uncertain origin typically appearing in early adolescence with a higher incidence among females with autoimmunity and C3 hypocomplementemia. Approximately 250 cases were reported worldwide, we present a case of BSS that began after pregnancy. A biopsy of the affected areas reveals reduced adipocytes. Metabolic abnormalities are relatively uncommon in APL compared to other forms of lipo
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33

Hosokawa, Mayumi, Hironori Shibata, Takahiro Hosokawa, Junichiro Irie, Hiroshi Ito, and Tomonobu Hasegawa. "Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature." Journal of Pediatric Endocrinology and Metabolism 32, no. 5 (2019): 537–41. http://dx.doi.org/10.1515/jpem-2018-0356.

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Abstract Hematopoietic stem cell transplantation (HSCT) has been newly identified as an etiology underlying acquired lipodystrophy (ALD). We report about two children with leukemia who underwent HSCT and later manifested aberrant fat distributions consistent with acquired partial lipodystrophy (APL). Both patients manifested graft-versus-host disease (GVHD), suggesting that GVHD may trigger lipodystrophy. The patients exhibited diabetic blood glucose patterns in the oral glucose tolerance test (OGTT) with high homeostasis model assessment ratios (HOMA-Rs), hypertriglyceridemia, fatty liver, an
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34

Lightbourne, Marissa, Marinna Okawa, Christopher Koh, and Rebecca J. Brown. "Long Term Effects of Leptin on Hepatic Fibrosis in Generalized Lipodystrophy." Journal of the Endocrine Society 5, Supplement_1 (2021): A292. http://dx.doi.org/10.1210/jendso/bvab048.594.

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Abstract Lipodystrophy syndromes are caused by deficiency of adipose tissue leading to severe insulin resistance, hypertriglyceridemia, and non-alcoholic fatty liver disease (NAFLD), which may progress to cirrhosis. Advanced fibrosis/cirrhosis was previously thought to be irreversible; however, eradication of hepatitis C or long-term viral suppression of hepatitis B can reverse cirrhosis. Metreleptin treatment in patients with lipodystrophy improves liver transaminases and NAFLD activity score (NAS) after a mean of 2 years, but the latter improvements were due to lower inflammation and steatos
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35

Tanner, Alexander, Hwei Wuen Chan, Anna Stears, and Mariya Moosajee. "Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis." BMJ Case Reports 14, no. 6 (2021): e241666. http://dx.doi.org/10.1136/bcr-2021-241666.

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A 35-year-old woman with acquired partial lipodystrophy (PLD) and features of type 2 membranoproliferative glomerulonephritis (MPGN-II), presented with difficulty in her fine detailed vision over the past year. She had right amblyopia from a hypermetropic anisometropia with astigmatism, displaying a best-corrected visual acuity of 0.50 and 0.00 LogMAR, in the right and left eye, respectively. Funduscopy showed bilateral symmetrical drusenoid deposits most prominent in the temporal macula with clusters in the superior and inferior retina, outside the temporal vascular arcades. Multimodal retina
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36

Ozgen Saydam, Basak, Melda Sonmez, Ilgin Yildirim Simsir, et al. "A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities." Endocrine Research 44, no. 1-2 (2018): 46–54. http://dx.doi.org/10.1080/07435800.2018.1513029.

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37

Akinci, Baris, Fatos Dilan Koseoglu, Huseyin Onay, et al. "Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities." Metabolism 64, no. 9 (2015): 1086–95. http://dx.doi.org/10.1016/j.metabol.2015.06.004.

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38

Rho, Nark-Kyoung, and Won-Serk Kim. "Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome): Early Cosmetic Intervention with Autologous Fat." Annals of Dermatology 30, no. 5 (2018): 610. http://dx.doi.org/10.5021/ad.2018.30.5.610.

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39

José, Anthar Ávalos Narváez, Daniel Lupercio Romo Cesar, Cuadra Casillas Alondra, et al. "Surgical Management of Lipodystrophy in Barraquer-Simons Syndrome: Autologous Fat Redistribution and Reconstructive Strategies for Acquired Partial Lipodystrophy." International Journal of Medical Science and Clinical Research Studies 5, no. 05 (2025): 794–99. https://doi.org/10.5281/zenodo.15550516.

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<strong>Background:</strong> Barraquer-Simons Syndrome (BSS), a rare form of acquired partial lipodystrophy, is characterized by progressive adipose tissue loss in the cephalothoracic region, often with paradoxical fat accumulation in the lower body. This condition presents significant metabolic and aesthetic challenges, necessitating multidisciplinary management. Fat redistribution surgery (FRS) has emerged as a potential therapeutic approach to restore facial and upper body contour while addressing metabolic complications. <strong>Objective:</strong> This article reviews the surgical techniq
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40

Corvillo, Fernando, Laura González-Sánchez, Alberto López-Lera, et al. "Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)." International Journal of Molecular Sciences 22, no. 12 (2021): 6608. http://dx.doi.org/10.3390/ijms22126608.

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Complement overactivation has been reported in most patients with Barraquer–Simons syndrome (BSS), a rare form of acquired partial lipodystrophy. Complement Factor D (FD) is a serine protease with a crucial role in the activation of the alternative pathway of the complement system, which is mainly synthesized by adipose tissue. However, its role in the pathogenesis of BSS has not been addressed. In this study, plasma FD concentration was measured in 13 patients with BSS, 20 patients with acquired generalized lipodystrophy, 22 patients with C3 glomerulopathy (C3G), and 50 healthy controls. Gene
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41

Payapvipapong, Kittisak, Nucha Niumpradit, Artit Nakakes, and Kitti Buranawuti. "A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma." International Journal of Dermatology 53, no. 1 (2013): 82–84. http://dx.doi.org/10.1111/j.1365-4632.2011.05435.x.

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42

Charar, Chayki, and Yosef Gruenbaum. "Lamins and metabolism." Clinical Science 131, no. 2 (2016): 105–11. http://dx.doi.org/10.1042/cs20160488.

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Lamins are nuclear intermediate filaments (IFs) with important roles in most nuclear activities, including nuclear organization and cell-cycle progression. Mutations in human lamins cause over 17 different diseases, termed laminopathies. Most of these diseases are autosomal dominant and can be roughly divided into four major groups: muscle diseases, peripheral neuronal diseases, accelerated aging disorders and metabolic diseases including Dunnigan type familial partial lipodystrophy (FLPD), acquired partial lipodystrophy (APL) and autosomal dominant leucodystrophy. Mutations in lamins are also
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43

Pratyusha, Ganne, and Marcela Votruba. "Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome)." Acta Ophthalmologica 93, no. 7 (2015): e598-e599. http://dx.doi.org/10.1111/aos.12690.

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44

Velter, C., N. Messaddeq, E. Levy, et al. "Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer–Simons syndrome)." Journal of the European Academy of Dermatology and Venereology 33, no. 11 (2019): 2188–91. http://dx.doi.org/10.1111/jdv.15366.

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45

Winhoven, Sandra M., and Ian Coulson. "An unusual case of an acquired acral partial lipodystrophy associated with extrinsic allergic alveolitis." Journal of the American Academy of Dermatology 50, no. 3 (2004): P45. http://dx.doi.org/10.1016/j.jaad.2003.10.180.

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46

Al-Jawad, Mohammad, Lina Mawaldi, Nada Mawaldi, Mariam Krimsty, and Silva Ishkanian. "Acquired partial lipodystrophy (Barraquer-Simons syndrome) with both-side axillary breasts: A case report." International Journal of Surgery Case Reports 129 (April 2025): 111202. https://doi.org/10.1016/j.ijscr.2025.111202.

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47

Dupéré, Audrey, and Yves Poulin. "Facial Lipoatrophy following Systemic Lupus Erythematosus." Journal of Cutaneous Medicine and Surgery 7, no. 3 (2003): 232–35. http://dx.doi.org/10.1177/120347540300700308.

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Background: Acquired partial lipodystrophy is a rare disorder. An association with systemic lupus erythematosus has been reported. In these cases, an immunologic basis is suggested by the presence of C3 nephritic factor and hypocomplementemia. Objective: The following report presents the case of a woman who developed a rapid loss of facial subcutaneous fat a few months after complete spontaneous resolution of cutaneous lesions of lupus. Conclusion: Absence of C3NeF in this case suggests that other immunological factors may be involved in the pathogenesis.
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48

Knebel, Birgit, Dirk Müller-Wieland, and Jorg Kotzka. "Lipodystrophies—Disorders of the Fatty Tissue." International Journal of Molecular Sciences 21, no. 22 (2020): 8778. http://dx.doi.org/10.3390/ijms21228778.

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Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. This is a crucial difference to being slim where the fat cells are present and store lipids if needed. A simple clinical classification of lipodystrophies is based on congenital vs. acquired and generalized vs. partial di
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49

Matthai, SmitaMary, Shibu Jacob, Raiyani Palak, K. Jagdish, Santosh Varughese, and V. Tamilarasi. "Crescentic C3 glomerulopathy with acquired partial lipodystrophy: An unusual cause of rapidly progressive renal failure." Indian Journal of Pathology and Microbiology 60, no. 2 (2017): 290. http://dx.doi.org/10.4103/0377-4929.208401.

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50

Hegele, Robert A., Henian Cao, Dora M. Liu, et al. "Sequencing of the Reannotated LMNB2 Gene Reveals Novel Mutations in Patients with Acquired Partial Lipodystrophy." American Journal of Human Genetics 79, no. 2 (2006): 383–89. http://dx.doi.org/10.1086/505885.

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