We report the first case of generalized lipodystrophy with orbital inflammatory symptoms. A 6-year-old female with hypothyroidism who developed hepatosplenomegaly, lymphadenopathy, and progressive loss of subcutaneous fat. Following flu vaccination, she developed orbital inflammatory symptoms. Imaging of the orbits demonstrated a paucity of retrobulbar fat and fat stranding. Systemic workup revealed insulin resistance and hepatosteatosis, consistent with generalized lipodystrophy. We discuss the typical history and examination findings in generalized lipodystrophy and review the etiology, treatment options, and outcomes.
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http://dx.doi.org/10.1097/IOP.0000000000002823 | DOI Listing |
Melanoma Res
December 2024
Department of Medicine, School of Medicine, University of Utah.
Acquired generalized lipodystrophy (AGL) is a rare complication of immune checkpoint inhibitors (ICIs) and is associated with immune-mediated loss of adipose tissue, peripheral resistance to insulin, and serious metabolic complications. Here we report a new case of ICI-induced AGL and provide an updated literature review of published cases. We report a 39-year-old female patient treated with adjuvant pembrolizumab for stage IIIC nevoid melanoma with ICI-induced AGL.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
December 2024
Université Paris Cité, ECEVE UMR 1123, INSERM, Paris, France.
Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.
Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.
Front Genet
November 2024
Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Introduction: Inherited lipodystrophies are a group of rare diseases defined by severe reduction in adipose tissue mass and classified as generalized or partial. We report a non-familial (sporadic) case of partial lipodystrophy caused by a novel genetic mechanism involving closely linked pathogenic variants in the gene.
Methods: A female adult with partial lipodystrophy and her parents were evaluated for gene variants across the exome under different mendelian inheritance models (autosomal dominant, recessive, compound heterozygous, and X-linked) to find pathogenic variants.
Facial 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 PDFOphthalmic Plast Reconstr Surg
November 2024
Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, NY, U.S.A.
We report the first case of generalized lipodystrophy with orbital inflammatory symptoms. A 6-year-old female with hypothyroidism who developed hepatosplenomegaly, lymphadenopathy, and progressive loss of subcutaneous fat. Following flu vaccination, she developed orbital inflammatory symptoms.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!