436 results match your criteria: "Lipodystrophy Localized"
We report the case of a patient with type 2 diabetes mellitus (T2DM) on insulin therapy with a history of recurrent and severe hypoglycemia related to lipodystrophy with an uncommon clinical presentation. This was the case of a 67-year-old female with type 2 diabetes hospitalized for the exploration and management of severe and recurrent hypoglycemia. Her diabetes has been evolving since the age of 40 years and was complicated by minimal retinopathy.
View Article and Find Full Text PDFA woman with multifocal lipodystrophy in unilateral trunk and extremities.
Neuro Endocrinol Lett
November 2024
First Affiliated Hospital of Kunming Medical University, Kunming, China.
Adipose dystrophy, also known as lipodystrophy, is a heterogeneous disease characterized by the complete or partial loss of adipose tissue. In some cases, patients with lipodystrophy may exhibit fat accumulation in other areas of the body, as well as metabolic abnormalities such as insulin resistance, hyperlipidemia, liver disease, and increased metabolic rate. The condition may also be associated with gene mutations, including those in acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2), caveolin-1 (CAV1), polymerase I and transcript release factor (PTRF), lamins A (LMNA), zinc metalloproteinase (ZMPSTE24), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2), perilipin 1 (PLIN1), and proteasome subunit, β-type, 8 (PSMB8).
View Article and Find Full Text PDFFacial lipoatrophy, a sign of normal aging, also occurs due to lipodystrophy from metabolic disorders affecting lipogenesis. It can be hereditary or acquired, localized or generalized. In HIV patients, prolonged antiretroviral therapy (ART) is a major cause, affecting around 55% of patients with 47% experiencing facial lipoatrophy.
View Article and Find Full Text PDFScarless Enhanced Body Contouring.
Aesthetic Plast Surg
October 2024
Plastic Surgery Department, Tanta Faculty of Medicine, Tanta, Egypt.
Background: A helium-based plasma device with minimal invasiveness selectively heats tissues via joule heating, ensuring safe external temperatures and eliminating the need to monitor the epidermal temperature.
Methods: From December 2022 to January 2024, Forty-six patients without prior bariatric surgery, who had localized lipodystrophy and mild-to-moderate skin laxity in various body areas, were enrolled in this prospective work. Liposuction was paired with a helium-based plasma radiofrequency device used for all patients.
Somapacitan-induced reversible lipoatrophy in an adult woman with hypopituitarism.
Pituitary
October 2024
Faculty of Medicine, University Medical Centre Ljubljana, University of Ljubljana, Zaloška cesta 7, Ljubljana, SI-1000, Slovenia.
Article Synopsis
Disentangling the detrimental effects of local from systemic adipose tissue dysfunction on articular cartilage in the knee.
Osteoarthritis Cartilage
December 2024
Arthritis & Regenerative Medicine Laboratory, Centre for Arthritis and Musculoskeletal Health, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK. Electronic address:
Article Synopsis
A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.
Rev Paul Pediatr
May 2024
Universidade Estadual de Montes Claros, Montes Claros, MG, Brazil.
Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T).
Case Description: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges.
Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
Arch Endocrinol Metab
May 2024
Divisão de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil,
Article Synopsis
- * Two cases of FPLD were reported, where Patient 1 had a specific LMNA mutation and developed kidney issues, while Patient 2, with a different mutation, experienced worsening kidney function over time.
- * Both patients showed hyperinsulinemia but no diabetes, highlighting the need for ongoing monitoring of kidney health in individuals with FPLD due to the variable effects linked to LMNA mutations.
Characteristics of nuclear architectural abnormalities of myotubes differentiated from Lmna skeletal muscle cells.
In Vitro Cell Dev Biol Anim
August 2024
Department of Pathophysiology, Tokyo Medical University, Tokyo, Japan.
Article Synopsis
- Nuclear architectural abnormalities are characteristic of nuclear envelopathies caused by mutations in nuclear envelope proteins, particularly the lamin A/C gene, leading to diseases like muscular dystrophies and progeria.
- A mouse model with the Lmna H222P mutation showed severe cardiomyopathy and abnormal nuclei in skeletal muscle, with myoblasts and myotubes exhibiting different degrees of nuclear shape abnormalities during in vitro differentiation.
- Myonuclei from H222P mice displayed persistent deformities, with a significant portion having blebs, while maintaining some nuclear envelope protein localization, indicating disruptions in nuclear structure without triggering DNA damage or apoptosis.
Article Synopsis
- Bi-allelic pathogenic variations in a specific gene are linked to various hereditary disorders, including the rare Wiedemann-Rautenstrauch syndrome (WRS), which shows neonatal symptoms like growth issues and distinctive facial features.
- This study details a clinical case of a 7-year-old girl with WRS, where whole-exome sequencing revealed a novel missense variant and two intronic variants associated with the condition.
- The findings confirm the pathogenic nature of these genetic changes, contributing to the understanding of POLR3A-related disorders and highlighting the need for further research in the area.
Labia Majora Hypertrophy in a Patient Affected by Familial Partial Lipodystrophy Type 5: A Case Report on Diagnosis, Presentation, and Surgical Correction.
Aesthetic Plast Surg
February 2024
Plastic Surgery, University of Milan, Milan, Italy.
Article Synopsis
- Familial partial lipodystrophy (FPLD) is a rare genetic disease that causes localized fat loss in the body, and a unique case is presented where labia majora hypertrophy was associated with FPLD.
- A 26-year-old patient with significant labia majora hypertrophy underwent a surgical procedure (lateral reduction labioplasty with pubo-pexy) to address her condition.
- The patient was found to have a genetic mutation linked to FPLD type 5, and after the surgery, she healed well and returned to her normal life within four weeks.
The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.
Life Sci
March 2024
Department of Biotechnology, National Institute of Pharmaceutical Education and Research, Guwahati 781101, Assam, India. Electronic address:
Article Synopsis
- - Lamins, specifically Lamin A/C, are proteins found in the inner nuclear membrane that provide structural support to the nucleus and play a key role in gene expression and chromatin organization.
- - The expression of Lamin A/C varies across different tissues, being higher in hard tissues like bone and muscle, and it’s crucial for maintaining cellular function; mutations in the LMNA gene can lead to diseases such as muscular dystrophy and cardiomyopathies.
- - This review explores the structure, expression patterns, and functions of Lamin A/C, especially its role in cardiovascular diseases, while suggesting potential therapeutic interventions to address related symptoms.
Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.
Cells
November 2023
Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", 40136 Bologna, Italy.
Article Synopsis
- Type-2 Familial Partial Lipodystrophy (FPLD2) leads to fat loss in the trunk and limbs while causing excess fat deposits in the neck and face, linked to mutations affecting adipose tissue function.* -
- Research indicates that the mineralocorticoid receptor (MR) is crucial in the differentiation of adipose tissue, with FPLD2 affecting the MR's location within cells, resulting in abnormal fat cell development.* -
- Treatment with the MR antagonist spironolactone has shown promise in redirecting FPLD2 preadipocyte differentiation toward a healthier 'brown' fat type, which can improve fat tissue function in affected patients.*
Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center.
Pediatr Dermatol
January 2024
Division of Dermatology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Article Synopsis
- * This study analyzed 11 pediatric patients diagnosed with localized SSS over a period from 1988 to 2021, using clinical data and imaging techniques to understand the disease better.
- * Results showed distinctive imaging features, with MRI revealing high signal intensity in affected areas, and highlighted shear wave ultrasound elastography (SWE) as a useful, noninvasive method for assessing and monitoring skin stiffness in SSS and potentially other pediatric skin conditions.
Isolated Congenital Lower Limb Lipoatrophy: A Case Report and Literature Review.
Plast Reconstr Surg Glob Open
August 2023
Plastic and Reconstructive Surgery Division, Surgery Department, Security Forces hospital, Riyadh, Saudi Arabia.
Article Synopsis
- Lipoatrophy and lipodystrophy are often confused but have key differences, particularly regarding the role of inflammation in subcutaneous adipose tissue (SAT) loss; lipoatrophy involves inflammation while lipodystrophy does not.
- SAT loss can occur due to both acquired causes (like drug injections or injuries) and congenital causes (like familial partial lipodystrophy and congenital generalized lipodystrophy), each with varying mutations and clinical signs.
- A case study highlighted a 12-year-old girl with SAT loss in her left lower limb since birth, lacking inflammation, leading to a suspected diagnosis of familial partial lipodystrophy; genetic testing was inconclusive, and she will undergo conservative therapy
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
FASEB J
August 2023
Enteric Disease Division, Department of Microbiology, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Article Synopsis
- Laminopathies are rare genetic disorders that cause various health issues, including premature aging, heart problems, and muscular dystrophy due to abnormal lamin proteins.
- These disorders result from disruptions in the nucleoskeleton, specifically caused by mutations in lamin proteins that affect their expression and function.
- The study suggests that these disruptions lead to nuclear proteotoxicity, raising concerns about the role of protein balance in diseases linked to premature aging and laminopathies.
A promising treatment for spontaneous ovarian hyperstimulation syndrome due to familial partial lipodystrophy: GnRH analogs combined with cyst aspiration.
Hormones (Athens)
December 2023
Department of Obstetrics and Gynaecology, Ankara University School of Medicine, Ankara, Turkey.
Article Synopsis
- The case report discusses a patient with familial partial lipodystrophy (FPLD) and polycystic ovary syndrome (PCOS) who developed symptoms similar to ovarian hyperstimulation syndrome (OHSS) due to extremely enlarged ovaries.
- The patient was treated with gonadotropin-releasing hormone (GnRH) analogs and abdominal cyst aspiration, showing significant clinical improvement after six months.
- Results included decreased testosterone levels, improved insulin and triglyceride levels, reduction in ovarian cyst size, and weight loss, suggesting that GnRH analogs can be an effective treatment for severe cases of enlarged multicystic ovaries and hyperandrogenemia.
Annular neutrophilic dermatoses.
Clin Dermatol
July 2023
Department of Dermatology, Başkent University Faculty of Medicine, Adana Dr. Turgut Noyan Application and Research Center, Adana, Turkey.
Article Synopsis
- * Diagnosing NDs can be challenging due to the diverse clinical features and atypical presentations, but specific histopathological traits can aid in differentiation.
- * Treatment typically involves systemic steroids and dapsone, along with other medications such as immunosuppressants and targeted therapies, which can be effective for different types of NDs, including those that cause annular lesions.
Oxidative and DNA damage in obese patients undergoing bariatric surgery: A one-year follow-up study.
Mutat Res
November 2023
Unità di Genetica, Dipartimento di Biologia, University of Pisa, Pisa, Italy. Electronic address:
Article Synopsis
- * Researchers used specific assays to measure cell membrane oxidation and DNA damage in lymphocytes of obese patients and normal-weight controls, finding increased oxidative damage in obese patients before surgery.
- * Post-bariatric surgery follow-up showed improvements in oxidative damage and reduced DNA double strand breaks in obese patients, stressing the importance of monitoring these markers after surgery.
Use of Radiofrequency-Assisted Liposuction (BodyTite) for Upper Arms Lifting.
Aesthetic Plast Surg
December 2023
Plastic Surgery Unit, Department of Surgical, Microsurgical and Medical Sciences, University of Sassari, Sassari, Italy.
Article Synopsis
A Visual Diagnosis: Lipodystrophy.
JCEM Case Rep
May 2023
Division of Endocrinology, Diabetes, and Metabolism, John Hopkins School of Medicine, Asthma & Allergy Building, Baltimore, MD 21224, USA.
Article Synopsis
- - Lipodystrophy syndromes are rare disorders marked by the loss of fat tissue, leading to issues like insulin resistance and high blood lipid levels, and can often be misdiagnosed due to varying symptoms.
- - Correct identification of these syndromes is crucial for effective treatment and ongoing care, as many cases are overlooked during physical exams by healthcare providers.
- - The potential use of GLP-1 analogs for treatment hasn't been thoroughly studied, and this text aims to raise awareness among general healthcare practitioners about recognizing partial lipodystrophy and exploring treatment options.
Subcutaneous Transplantation of White Adipose Tissue.
Methods Mol Biol
April 2023
Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
Article Synopsis
- White adipose tissue (WAT) transplantation is used in research to study the role of fat cells and associated immune cells in metabolism.* -
- Mice are typically used as models for this type of transplant, moving fat from a donor to either a similar site on the same mouse or to another mouse.* -
- The article outlines the heterologous fat transplantation procedure, including necessary surgical care and how to confirm the success of the graft through histology.*
Antiretroviral therapy regimen modification rates and associated factors in a cohort of HIV/AIDS patients in Asmara, Eritrea: a 16-year retrospective analysis.
Sci Rep
March 2023
Unit of Allied Sciences, Orotta College of Medicine and Health Sciences, Asmara, Eritrea.
Article Synopsis
- This study analyzed the durability and modification rates of combined antiretroviral therapy (cART) in 5020 HIV patients at four treatment centers in Asmara, Eritrea, from 2005 to 2021.
- It found that 64% of patients experienced cART modifications, primarily due to reasons like toxicity and treatment failure, with common adverse events including lipodystrophy and anemia.
- Key predictors of cART modifications included the treatment organization and initial WHO clinical stage, indicating differences in patient management and care outcomes across hospitals.
Subcutaneous tissue involvement in idiopathic inflammatory myopathies: Systematic literature review including three new cases and hypothetical mechanisms.
Autoimmun Rev
April 2023
Institute for Regenerative Medicine and Biotherapy, INSERM U1183, Montpellier, France; Montpellier-1 University, Faculty of Medicine, France; Department of Internal Medicine and Multi-Organic Diseases, Montpelier University Hospital, France. Electronic address:
Article Synopsis
- Subcutaneous tissue involvement in idiopathic inflammatory myopathies (IIM) is not well understood, prompting a systematic review of related conditions like panniculitis and lipodystrophy in both juveniles and adults.
- The findings indicate that panniculitis is more common in adults, responds well to steroid treatment, and often aligns with the progression of myositis; in contrast, lipodystrophy is mainly found in juveniles and linked to dermatomyositis.
- The study concludes that lipodystrophy's relationship with myositis diagnosis and potential poor disease control suggests a need for more extensive research to identify risk factors and therapeutic targets in these patients.
Morphea-like localized involutional lipoatrophy treated with methotrexate and hydroxychloroquine.
JAAD Case Rep
June 2024
Division of Dermatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.