Combination of familial partial lipodystrophy (Dunnigan-Cobberling syndrome) with pulmonary sarcoidosis
https://doi.org/10.14341/DM13102
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.
About the Authors
N. V. Frolkova
Endocrinology Research Centre
Russian Federation
Russian Federation
Nadezhda V. Frolkova, PhD student
11 Dm. Ulyanova street, 117036 Moscow
E. O. Koksharova
Endocrinology Research Centre
Russian Federation
Russian Federation
Ekaterina O. Koksharova, MD, research associate
Moscow
P. A. Vasiluev
Research Center for Medical Genetics
Russian Federation
Russian Federation
Peter A. Vasiluev, MD, research associate
Scopus ID: 57202745394;
WoS Researcher ID: AAN-4520-2020;
Moscow
O. M. Smirnova
Endocrinology Research Centre
Russian Federation
Russian Federation
Olga M. Smirnova, MD, PhD, Professor, chief research associate
Moscow
M. V. Shestakova
Endocrinology Research Centre
Russian Federation
Russian Federation
Marina V. Shestakova, MD, PhD, Professor, Academician of the Russian Academy of Sciences
Scopus Author ID: 7004195530
Moscow
References
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Supplementary files
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1. Рисунок 1. Фенотип пациентки К. Красной стрелкой обозначены зоны липогипертрофии; черной — зоны липодистрофии (впервые опубликовано Соркина Е.Л. и соавт.) [8]. | |
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2. Рисунок 2. Acanthosis nigricans подмышечных впадин пациентки К. (впервые опубликовано Соркина Е.Л. и соавт.) [8]. | |
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3. Рисунок 3. Генеалогическое древо пациентки К. (впервые опубликовано Соркина Е.Л. и соавт.) [8]. | |
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4. Рисунок 4. Рентенография легких пациентки Д. | |
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5. Рисунок 5. Фенотип пациентки Д. Красной стрелкой обозначены зоны липогипертрофии; черной — зоны липодистрофии. | |
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For citations:
Frolkova N.V., Koksharova E.O., Vasiluev P.A., Smirnova O.M., Shestakova M.V. Combination of familial partial lipodystrophy (Dunnigan-Cobberling syndrome) with pulmonary sarcoidosis. Diabetes mellitus. 2024;27(3):287-294. (In Russ.) https://doi.org/10.14341/DM13102
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