The multifaceted challenges of Proteus syndrome

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L G Biesecker1

  • 1National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bldg 49, Room 4A80, Bethesda, MD 20892-4472, USA. leslieb@helix.nih.gov

JAMA
|May 18, 2001
PubMed

Insights

Proteus syndrome causes mosaic overgrowth in multiple tissues, leading to complications like skeletal deformities and tumors. This review covers diagnosis, natural history, and management of this rare disorder.

Area of Science:

  • Genetics and rare diseases
  • Developmental biology
  • Clinical medicine

Background:

  • Proteus syndrome is a rare, sporadic disorder characterized by mosaic overgrowth of various tissues.
  • Overgrowth can affect skin, subcutaneous tissue, bone, central nervous system, and viscera.
  • Complications include skeletal deformities, lipomas, tumors, and thromboembolism.

Observation:

  • A case study of a 5-year-old patient with Proteus syndrome is presented, highlighting various complications.
  • The patient exhibited significant medical issues stemming from the disorder's progressive nature.

Findings:

  • Proteus syndrome is associated with progressive skeletal deformities, invasive lipomas, and both benign and malignant tumors.
  • Other serious complications include deep venous thrombosis and pulmonary embolism.

Implications:

  • Effective management of Proteus syndrome requires a multidisciplinary approach due to its diverse medical and psychosocial consequences.
  • This review synthesizes current knowledge on diagnosis, natural history, etiology, and treatment strategies for Proteus syndrome.
  • Understanding the complexities of Proteus syndrome is crucial for improving patient care and outcomes.

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