41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.
January 1962 in “Archives of Dermatology” This case report describes a 5-year-old girl with lipoid proteinosis, characterized by a raspy voice, thinning scalp hair, and recurrent crusted lesions leading to pock-like scars.
45 citations
,
August 2018 in “Journal of Lipid Research” This study observed that partial autotaxin deficiency in mice protects against diet-induced obesity and systemic insulin resistance, suggesting the ATX-LPA pathway negatively affects skeletal muscle insulin signaling and mitochondrial function during obesity.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
1 citations
,
January 1986 in “PubMed” This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study reports a rare case of two siblings with lipoedematous scalp, suggesting a possible genetic link that warrants further investigation.
June 2025 in “International Journal of Molecular Sciences” This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
August 1995 in “Journal of The European Academy of Dermatology and Venereology” New therapy helps treat hair loss.
August 1995 in “Journal of The European Academy of Dermatology and Venereology” New therapy helps treat hair loss.
28 citations
,
January 2007 in “Journal of dermatology” This case report describes instances of lipedematous scalp and lipedematous alopecia in white adults, indicating these rare conditions may be more widespread and frequent in this population than previously thought.
27 citations
,
December 1999 in “American Journal of Dermatopathology” This case report presents a patient with necrobiosis lipoidica exhibiting transepithelial elimination of cholesterol crystals through hair follicles, a finding previously associated with necrobiotic xanthogranuloma.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
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.
12 citations
,
April 2004 in “PubMed” This study reports the first known case of multiple type nevus lipomatosus cutaneous superficialis in a 10-month-old girl, with the unique feature of perifollicular fibrosis.
8 citations
,
December 1997 in “International Journal of Dermatology” This case report describes a 30-year-old man's scleroderma-like skin changes and segmental thrombosis in the left leg, along with elevated blood sugar and advised weight management and limb care.
7 citations
,
May 1978 in “Acta Dermato Venereologica” This case report details a 36-year-old man with atypical necrobiosis lipoidica on his face, characterized by annular lesions and prominent giant cells without clear granuloma formation.
132 citations
,
January 2017 in “International Journal of Molecular Sciences” This review explores how adipose-derived stem cells contribute to skin homeostasis and highlights recent advances in their clinical applications in dermatology, but it reports no new clinical results.
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.
60 citations
,
May 2015 in “Archives of dermatological research” This review discusses the role of peroxisome proliferator-activated receptors and their agonists in dermatology but reports no new clinical results.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
43 citations
,
October 2019 in “Pediatric Research” This review discusses the International Evidence-Based PCOS Guidelines, which aim to improve diagnosis and management of PCOS and its associated comorbidities, noting the importance of early intervention and healthy lifestyle changes; it reports no new results.
43 citations
,
June 2016 in “Clinics in Plastic Surgery” This article reviews technical aspects of using autologous fat transfer for facial rejuvenation and examines existing evidence for stem cell and platelet-rich plasma therapies in aesthetic practice, reporting no new results.
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.
27 citations
,
December 2016 in “Dermatology and Therapy” This review highlights the potential for clinicians to recognize skin manifestations as a straightforward method to detect insulin resistance and improve management of diabetes and obesity.
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.
22 citations
,
March 2000 in “Clinics in Dermatology” This study developed a method using HPLC with UV-DAD and ESI-MS detection to identify prohibited substances like minoxidil and hormones in cosmetic products advertised online for hair loss and skin conditions.
14 citations
,
January 2012 in “International Journal of Dermatology” This case report describes oleoma on the thighs and buttocks appearing two years after an injection for cellulite treatment, suggesting the need for more research to ensure the procedure's safety and efficacy.
7 citations
,
October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.