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Related Experiment Video

Updated: Jun 1, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Do you know this syndrome?

Mônica Santos¹, Renata Rabelo, Virgínia Vilasboas

¹Tropical Medicine Foundation of the Amazonas (FMTAM) – Manaus (AM), Brazil. m.n.souza.santos@gmail.com

Anais Brasileiros De Dermatologia

|May 24, 2011

Summary

This summary is machine-generated.

Barraquer-Simons syndrome, a rare progressive lipodystrophy, involves symmetrical fat loss. This case report details a patient with Barraquer-Simons syndrome who presented without systemic complications.

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Last Updated: Jun 1, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Area of Science:

Endocrinology
Genetics
Dermatology

Background:

Barraquer-Simons syndrome, also known as acquired partial lipodystrophy, is a rare disorder.
It is characterized by progressive, symmetrical loss of subcutaneous adipose tissue.
The fat loss typically begins in the head and progresses to the trunk and limbs.

Observation:

This report presents a case study of a patient diagnosed with Barraquer-Simons syndrome.
The patient exhibited the characteristic symmetrical lipoatrophy.
Notably, the patient did not present with any systemic complications.

Findings:

The case highlights a presentation of Barraquer-Simons syndrome.
The absence of systemic complications in this patient is a key finding.
This suggests potential variations in disease manifestation.

Implications:

Understanding the diverse presentations of Barraquer-Simons syndrome is crucial for accurate diagnosis.
Further research may elucidate the factors influencing systemic involvement.
This case contributes to the knowledge base of rare lipodystrophic disorders.