53 citations
,
June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
4 citations
,
May 2023 in “Cells” In this study, baricitinib treatment improved the differentiation of skin-derived precursors into adipocytes for diseases like Hutchinson-Gilford progeria syndrome, suggesting potential benefits when combined with lonafarnib.
5 citations
,
August 2003 in “AIDS” This case report highlights a new manifestation of lipodystrophy in HIV patients: excess fat deposition in the anterior neck, which may have implications for treatment strategies.
This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
5 citations
,
May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
1 citations
,
July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
15 citations
,
May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, repetitive botulinum type A toxin injections led to almost complete resolution of severe chronic pain in a patient with Parry-Romberg syndrome.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
October 2025 in “Journal of the Endocrine Society” In this case report, a 21-year-old female with familial partial lipodystrophy type 2 and hyperandrogenism was found to have a rare Sertoli cell tumor of the ovary, highlighting an unusual presentation where links between these two rare conditions are still unknown.
29 citations
,
January 2020 in “Frontiers in endocrinology” This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
September 2014 in “Journal der Deutschen Dermatologischen Gesellschaft” Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
24 citations
,
November 2023 in “NEWPORT INTERNATIONAL JOURNAL OF SCIENTIFIC AND EXPERIMENTAL SCIENCES” This article reviews the various short- and long-term side effects of antiretroviral therapy for HIV, highlighting issues like dyslipidemia and hypertension, but reports no new clinical results.
3 citations
,
January 2021 in “Journal of Research in Medical Sciences” This review examines the interplay between metabolic syndrome and dermatologic conditions and reports no clinical results, emphasizing the need for awareness of their interconnected impacts when managing inflammatory skin diseases.
January 2001 in “Clinical and Experimental Dermatology” A test for nail fungus was most accurate with PAS stain, low-dose spironolactone helped two-thirds of acne patients, metformin reduced symptoms of HIV-related fat distribution changes with some side effects, and skin examination with dermoscopy was better at detecting abnormal moles, while temporary tattoos can cause skin reactions.
2 citations
,
August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
1 citations
,
June 2001 in “Annals of Internal Medicine” This letter to the editor discusses data from a study on troglitazone for lipodystrophy, noting significant increases in subcutaneous fat without dietary changes.
1540 citations
,
October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
30 citations
,
September 2017 in “Clinics in Dermatology” This article reviews the clinical and histological features of acanthosis nigricans and its associations with insulin resistance and other conditions, but highlights the need for more research on its classification, severity assessment, and treatment options.
9 citations
,
July 2009 in “Journal Of Endocrinology, Metabolism And Diabetes Of South Africa” The document concludes that managing PCOS involves treating symptoms and reducing long-term metabolic risks, with lifestyle changes being important.
March 2023 in “East African scholars journal of medical sciences” This review examines metformin use in PCOS treatment, noting that while non-randomized studies show improvements, randomized controlled trials suggest benefits are limited and highlight lifestyle changes as potentially more effective.
1 citations
,
June 2022 in “JCRPE” This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.
257 citations
,
July 2018 in “Obstetrics & Gynecology” This review discusses the various phenotypes and diagnostic challenges of polycystic ovary syndrome, highlighting its complex pathophysiology and associated health risks, and reports no new clinical results.
1265 citations
,
October 2013 in “The Journal of Clinical Endocrinology and Metabolism” This guideline from the Endocrine Society recommends using the Rotterdam criteria for diagnosing polycystic ovary syndrome and outlines first-line treatments, emphasizing hormonal contraceptives and lifestyle intervention.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
21 citations
,
June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.