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Pulmonary manifestations and management of proteus syndrome

Chia-Ying Li1, Yih-Leong Chang, Wei-Chou Chen

  • 1Division of Thoracic Surgery, Department of Surgery, National Taiwan University College of Medicine, Taipei, Taiwan.

Journal of the Formosan Medical Association = Taiwan Yi Zhi
|May 26, 2010
PubMed

Insights

Proteus syndrome, a rare congenital overgrowth disorder, can cause lung issues like emphysema. This case highlights a patient

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Dermatology

Background:

  • Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth.
  • Its etiology is linked to somatic gene mutations, though exact causes remain unknown.
  • Commonly affected tissues include skin, bone, connective tissue, and the central nervous system.

Observation:

  • A 25-year-old male patient with Proteus syndrome presented with progressive dyspnea on exertion.
  • He also exhibited asymmetric overgrowth of his extremities.
  • Pulmonary examination revealed emphysematous changes, including bulla formation and calcification.

Findings:

  • The patient underwent a successful left pneumonectomy.
  • Postoperative recovery was uneventful.
  • Histopathological analysis of lung tissue confirmed emphysematous changes with bullae and calcification.

Implications:

  • This case underscores the importance of recognizing pulmonary manifestations in Proteus syndrome.
  • Early diagnosis and management of respiratory complications are crucial for patient outcomes.
  • Further research into the pulmonary aspects of Proteus syndrome is warranted.

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