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Genetic syndromes with localized subcutaneous fat tissue accumulation.

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.

SUBMITTER: Precone V

PROVIDER: S-EPMC7233643 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Genetic syndromes with localized subcutaneous fat tissue accumulation.

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

Acta bio-medica : Atenei Parmensis 20190930 10-S

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 ...[more]

PMID: 31577262

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