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Proteus syndrome.

Rainer Kloeppel1, Karin Rothe, Dieter Hoermann

  • 1Department of Diagnostic Radiology, University Hospital of Leipzig, Leipzig, Germany. kloeppr@medizin.uni-leipzig.de

Journal of Computer Assisted Tomography
|March 9, 2002
PubMed
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Proteus syndrome, a rare congenital hamartoma, involves mosaic mutations. This case highlights extensive dysplasias and lipomatosis in a surviving patient, emphasizing palliative care.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Proteus syndrome is a rare congenital hamartoma syndrome.
  • It arises from mosaic mutations.
  • Characterized by progressive, asymmetric overgrowth and hamartomatous malformations.

Observation:

  • A 17-year-old female patient presented with cachexia and chronic obstipation.
  • She exhibited multiple dysplasias including macrodactyly, nevi, hemihypertrophy, and aggressive lipomatosis.
  • Imaging revealed splenic hemangiomas, skull/cerebral malformations, and intestinal fatty wall thickening.

Findings:

  • The patient presented with a complex constellation of Proteus syndrome manifestations.
  • Unusual findings included extensive lipomatosis and significant intestinal involvement.

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  • The patient's survival beyond the typically reported lifespan is a key observation.

    • Implications:

    • This case underscores the variable clinical spectrum of Proteus syndrome.
    • It highlights the importance of comprehensive imaging and multidisciplinary management.
    • Palliative and symptomatic treatment approaches are crucial for managing this rare condition.