Combination of familial partial lipodystrophy (Dunnigan-Cobberling syndrome) with pulmonary sarcoidosis

Abstract

Lipodystrophy syndromes are a heterogeneous group of extremely rare, inherited or acquired disorders that are characterized by total or partial fat loss or its improper redistribution. The prevalence of lipodystrophies is estimated to be 1:1,000,000 in the population, with approximately 1,000 cases currently described in the literature.Sarcoidosis is a multisystem disease of unknown etiology that is characterized by the formation of non-caseating epithelioid granulomas in the affected tissues. Despite the large number of studies, the etiology and pathogenesis of sarcoidosis still remain unknown. Most researchers allude to the possible autoimmune or immune-mediated genesis of the disease.This article presents a series of unique clinical cases of a combination of two rare diseases in one patient: sarcoidosis and familial partial lipodystrophy.

Keywords

• sarcoidosis
• inherited lipodystrophies
• orphan diseases
• familial partial lipodystrophy