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Updated: Jun 13, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
[Do you know this syndrome? Bart's syndrome]
Nadia Aparecida Pereira de Almeida1, Flavia Serafini, Janaine Marchiori
1Hospital Infantil Pequeno Príncipe, Curitiba, PR, Brasil.
Anais Brasileiros De Dermatologia
|May 14, 2010
Summary
Bart's syndrome presents with epidermolysis bullosa, congenital skin absence, and nail issues. Early treatment focuses on preventing infection, leading to a favorable prognosis dependent on lesion healing.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Bart's syndrome is a rare genetic disorder.
- It involves a triad of epidermolysis bullosa, congenital skin absence, and nail abnormalities.
Observation:
- Congenital skin defects in Bart's syndrome are thought to follow Blaschko's lines.
- Clinical manifestations include blistering, skin erosions, and dystrophic nails.
Findings:
- The condition presents with distinct dermatological and structural abnormalities.
- Management strategies primarily aim to prevent secondary infections.
Implications:
- Understanding the Blaschko's line association aids in diagnosis.
- Effective management of secondary infections is crucial for a positive patient outcome.
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