Genetic syndromes with localized subcutaneous fat tissue accumulation

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Vincenza Precone
Shila Barati
Stefano Paolacci
Marzia Salgarello
Giuseppe Visconti
Stefano Gentileschi
Giulia Guerri
Lucilla Gagliardi
Barbara Aquilanti
Giuseppina Matera
Valeria Velluti
Giacinto Abele Donato Miggiano
Karen L. Herbst
Matteo Bertelli

Keywords

Lipedema, Dercum disease, lipomatosis

Abstract

Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis. Disorders belonging to this spectrum are lipedema, generalized diffuse or nodular forms of Dercum disease, localized nodular Dercum disease and multiple symmetric lipomatosis. Here we summarize the genes involved in syndromes with localized accumulation of subcutaneous fat and the test we use for genetic analysis.

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