Silvia Magno, Giovanni Ceccarini, Fernando Corvillo, Caterina Pelosini, Donatella Gilio, Melania Paoli, Silvia Fornaciari, Giuseppe Pandolfo, Sofia Sanchez-Iglesias, Pilar Nozal, Michele Curcio, Maria Rita Sessa, Margarita López-Trascasa, David Araújo-Vilar, Ferruccio Santini
BACKGROUND: Barraquer-Simons syndrome (BSS) is a rare acquired form of lipodystrophy characterized by progressive loss of upper body subcutaneous fat, which affects face, upper limbs, and trunk. The pathogenesis of the disease is not entirely known and may involve autoimmune mechanisms. AIM: This study aimed to provide a comprehensive picture of the clinical, immunological, and metabolic features of a large cohort of BSS patients. Our primary objectives included the validation of existing diagnostic tools, the evaluation of novel diagnostic approaches, and the exploration of potential disease triggers or genetic predispositions...
December 7, 2023: Journal of Clinical Endocrinology and Metabolism