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.
3 citations
,
December 2017 in “Clinical and Experimental Dermatology” In this case study, researchers observed reversible scalp hair loss associated with centrifugal lipodystrophy, potentially linked to altered leptin expression in inflamed adipose tissue.
24 citations
,
November 1974 in “Scottish medical journal” Diabetes often causes various skin problems and complications.
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.
September 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This paper reviews the diverse skin, nail, and hair changes caused by medications, highlighting hyperpigmentation, alopecia, and nail structural alterations, but reports no new data.
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.
53 citations
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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.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
6 citations
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March 2024 in “Experimental Dermatology” This review discusses recent findings on fibrotic lipodystrophy, highlighting the critical roles of lipid-filled cells in tissue function and their loss during fibrogenesis, with implications for fibrosis in tissues like skin, lung, and liver.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.
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.
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.
February 2024 in “Pediatric Dermatology” In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.
30 citations
,
May 2008 in “International Journal of Dermatology” This case report describes a 52-year-old black woman with diffuse scalp swelling and thinning hair attributed to a large increase in the thickness of scalp subcutaneous fatty tissue.
2 citations
,
January 2019 in “Case Reports in Dermatology” In this rare case report, the researchers described a 66-year-old African woman with lipedematous alopecia, highlighting its clinical features, the significance of palpation in examinations, and the uncertainty of it being a distinct disease entity or a combination of two conditions.
1 citations
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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.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
9 citations
,
December 2018 in “JAAD case reports” This study details the characteristics of lipedematous alopecia and lipedematous scalp, two rare scalp conditions, suggesting they may represent different stages of the same disorder, with lipedematous scalp lacking the hair loss seen in lipedematous alopecia.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition.
32 citations
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June 2003 in “The American Journal of Dermatopathology” This report describes the third known case of lipedematous scalp in a 51-year-old woman, marked by progressive thickening of the scalp without hair loss, and notes its association with early meningitis symptoms.
32 citations
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January 2007 in “KARGER eBooks” This review discusses severe insulin resistance syndromes, highlighting their diagnostic challenges, potential novel therapies like leptin replacement, and suggests metformin and lifestyle changes in its absence; no new clinical results are reported.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
March 2013 in “Journal of pediatric nursing” This case report presents a 14-year-old girl with type A insulin resistance, illustrating diagnostic processes to differentiate it from type 2 diabetes in the context of pediatric obesity and hyperglycemia.
1 citations
,
July 2021 in “Journal of Skin and Sexually Transmitted Diseases” This review discusses the etiology, clinical features, and treatment options for lipedema and lipedematous scalp and reports no new clinical results.
10 citations
,
April 2004 in “Journal of the American Academy of Dermatology” Localized hair growth and fat loss may share a common cause in lupus panniculitis.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
2 citations
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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.