Two new cases of Barraquer–Simons syndrome

Ferrarini, Alessandra; Milani, Donatella; Bottigelli, M.; Cagnoli, Giulia; Selicorni, Angelo

doi:10.1002/ajmg.a.20623

Cited by 15 publications

(13 citation statements)

References 11 publications

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“…The onset of the disease a often occurs in the first and second decade of life, predominantly affecting females. 2 The etiology of this syndrome remains unknown. Although considered an acquired form of lipodystrophy often associated with viral infections, the disease has also been recently linked to mutations in the gene encoding the nuclear lamina protein (lamin B2-LMNB2).…”

Section: Discussionmentioning

confidence: 99%

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Vilasboas

et al. 2011

An. Bras. Dermatol.

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Barraquer-Simons syndrome, also called acquired partial lipodystrophy or cephalothoracic lipodystrophy, is a rare form of progressive lipodystrophy, characterized by symmetrical lipoatrophy of subcutaneous adipose tissue starting in the head and spreading to the thorax, upper and lower limbs and thighs. In this work, we report the case of a patient with Barraquer-Simons syndrome without systemic complications.

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Section: Discussionmentioning

confidence: 99%

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Vilasboas

et al. 2011

An. Bras. Dermatol.

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“…The similarity of the lipocyte cells in liver to adipocytes has highlighted a group of NETs specific to fat cells (97) that are candidates for guilt by association in other inherited lipodystrophies (111)(112)(113)(114). The liver dataset could also be important for hepatic diseases.…”

Section: Discussionmentioning

confidence: 99%

Guilt by Association

Wilkie

Schirmer

2006

Molecular & Cellular Proteomics

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The discovery that many inherited diseases are linked to interacting nuclear envelope proteins has raised the possibility that human genetic studies could be assisted by a fusion with proteomics. Two principles could be applied. In the first, the proteome of an organelle associated with a genetically variable disease is determined. The chromosomal locations of the genes encoding the organellar proteins are then determined. If a related disease is linked to a large chromosomal region that includes a gene identified in the organelle, then that gene has an increased likelihood of causing the disease. Directly sequencing this allele from patient samples might speed identification compared with further genetic linkage studies as has been demonstrated for multiple diseases associated with the nuclear envelope. The second principle is that if an organelle has been implicated in the pathology of a particular disorder, then comparison of the organelle proteome from control and patient cells might highlight differences that could indicate the causative protein. The distinct, tissue-specific pathologies associated with nuclear envelope diseases suggest that many tissues will have a set of disorders linked to this organelle, and there are numerous as yet unmapped or partially mapped syndromes that could benefit from such an approach.

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“…Barraquer-Simons syndrome is extremely rare, with approximately 250 cases that have been reported in the literature with a male-to-female ratio of 1:4 [137]. The syndrome results in loss of subcutaneous fat mainly in the upper part of the body (face, neck, arms, and thorax) and upper abdomen; however, some adipose tissues are preserved in the gluteal regions and lower extremities [138]. Fortunately, Barraquer-Simons syndrome does not normally induce other metabolic complications such as insulin resistance, diabetes, and hypertriglyceridemia [137].…”

Section: Barraquer-simons Syndromementioning

confidence: 99%

Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities

Chung¹,

Qi²

2020

Rare Diseases

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Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose tissue. It can be inherited due to monogenic mutation or acquired by medication and autoimmune illness. Two primary forms of inherited lipodystrophy are congenital generalized lipodystrophy manifested as a near-complete loss of fat tissue since birth and familial partial lipodystrophy with progressive, partial loss of fat tissue during late childhood and puberty. Lipodystrophy results in severe metabolic conditions, including insulin resistance, type 2 diabetes, hepatosteatosis, polycystic ovary syndrome, acanthosis nigricans, and hypertension. This chapter summarizes the symptoms, causes, and treatments of inherited and acquired lipodystrophy.

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Two new cases of Barraquer–Simons syndrome

Cited by 15 publications

References 11 publications

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Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities

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