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Proteus syndrome.

H Yasuda1, O Yamamoto, H Hirokawa

  • 1Department of Dermatology, University of Occupational and Environmental Health, Kitakyushu, Japan. h-yasu@med.uoeh-u.ac.jp

Dermatology (Basel, Switzerland)
|October 5, 2001
PubMed
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This case report details Proteus syndrome, a rare disorder characterized by hemihypertrophy and tumors. The patient underwent significant tumor excision, highlighting the syndrome's complex manifestations.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Oncology

Background:

  • Proteus syndrome is a rare congenital hamartomatous disorder first described in 1983.
  • It is characterized by asymmetric, progressive overgrowth and a variety of tumors.
  • Differentiation from other congenital syndromes can be challenging due to overlapping features.

Observation:

  • A patient presented with severe left-sided hemihypertrophy of the trunk and lower extremity.
  • Additional findings included scoliosis, endometriosis, and large, bizarre-shaped body tumors.
  • A substantial amount of tumorous tissue, weighing 22.6 kg, was surgically excised.

Findings:

  • The case highlights the extensive and varied clinical manifestations of Proteus syndrome.
  • Surgical debulking of massive tumors was a significant intervention.

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  • This represents the sixth reported Japanese case in English literature, contributing to the understanding of its prevalence.

    • Implications:

    • Further case reports are crucial for refining diagnostic criteria for Proteus syndrome.
    • Understanding Proteus syndrome aids in differentiating it from other complex congenital disorders.
    • This case underscores the importance of comprehensive management for patients with Proteus syndrome.