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Updated: May 6, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Do you know this syndrome?

Carolina Degen Meotti1, Raquel Fonseca Ferreira da Silva Pulga, Karen de Almeida Pinto Fernandes

  • 1Rio de JaneiroRJ, Brazil.

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|November 1, 2013
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Cowden's disease, a rare genetic disorder, presents with skin lesions but carries a significant risk of developing cancers, particularly in the breast and thyroid. Early diagnosis and regular screenings are crucial for managing this condition and preventing malignancies.

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Area of Science:

  • Genetics
  • Dermatology
  • Oncology

Background:

  • Cowden's disease (multiple hamartoma syndrome) is an autosomal dominant inherited disorder.
  • Characterized by specific dermatological manifestations including facial trichilemmomas, oral fibromas, and acral keratoses.

Observation:

  • The disease often goes unrecognized due to its varied presentation.
  • Diagnosis is frequently delayed, hindering timely intervention.

Findings:

  • Cowden's disease significantly increases the risk of malignancies, notably in the breast, thyroid, and genitourinary tract.
  • Early identification of dermatological markers is key to recognizing the syndrome.

Implications:

  • Prompt diagnosis facilitates essential periodic check-ups for early cancer detection.
  • Management strategies should focus on surveillance for associated cancers to improve patient outcomes.