AUTHOR=Freire Erika Bastos Lima , Madeira Mayara Ponte , Lima Grayce Ellen da Cruz Paiva , Fernandes Virginia Oliveira , Aguiar Lindenberg Barbosa , Fontenele João Paulo Uchoa , Montenegro Ana Paula Dias Rangel , Marques Thyciara Fontenele , Ozório Renan Galvão , d’Alva Catarina Brasil , Montenegro Renan Magalhães TITLE=Misdiagnosis of Paget’s Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report JOURNAL=Frontiers in Endocrinology VOLUME=Volume 12 - 2021 YEAR=2021 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.683697 DOI=10.3389/fendo.2021.683697 ISSN=1664-2392 ABSTRACT=

Paget’s disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital generalized lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget’s disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble “pagetic” lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB’s differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil.