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Proteus Syndrome.

Shailender Rawal1, Bhuwan Sharma1, Surekha Dabla2

  • 1Post Graduate Student.

The Journal of the Association of Physicians of India
|October 14, 2016
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Summary
This summary is machine-generated.

Proteus syndrome, a rare disorder affecting multiple body systems, was documented in only 100 cases globally. This report details a 22-year-old male with Proteus syndrome experiencing severe physical limitations due to enlarged feet.

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Clinical Case Reports

Background:

  • Proteus syndrome is an extremely rare, sporadic genetic disorder affecting multiple organ systems.
  • Characterized by asymmetric and progressive overgrowth, it impacts skeletal, vascular, and soft tissues.
  • Fewer than 100 cases have been documented worldwide, highlighting its rarity.

Observation:

  • A 22-year-old male presented with Proteus syndrome.
  • The patient exhibited significantly enlarged and hypertrophied feet.
  • These physical manifestations led to considerable physical constraints and mobility issues.

Findings:

  • The case highlights the extensive phenotypic variability of Proteus syndrome.
  • Foot gigantism and hypertrophy were the primary presenting features.
  • The condition caused significant functional impairment and reduced quality of life.

Implications:

  • This case underscores the importance of early diagnosis and multidisciplinary management in Proteus syndrome.
  • Further research into the genetic underpinnings and therapeutic strategies for Proteus syndrome is warranted.
  • Understanding the diverse clinical presentations is crucial for managing patients with this rare disorder.