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Related Experiment Videos

Case Report: "Incognito" proteus syndrome.

Michelangelo Vestita1,2, Angela Filoni2, Nicola Arpaia3

  • 1Section of Plastic and Reconstructive Surgery, Department of Emergency and Organ Transplantation, University of Bari, Bari, 70124, Italy.

F1000Research
|June 5, 2018
PubMed
Summary
This summary is machine-generated.

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This case study highlights a rare, pauci-symptomatic presentation of Proteus syndrome (PS) in an adult woman. It emphasizes the importance of recognizing subtle signs for diagnosing this complex overgrowth disorder, even when associated with melanoma.

Area of Science:

  • Dermatology
  • Clinical Genetics
  • Medical Case Reports

Background:

  • Proteus syndrome (PS) is a rare, progressive, and disfiguring mosaic overgrowth disorder.
  • Clinical diagnosis relies on established criteria, but presentations can be elusive.
  • The association of PS with other significant conditions, like melanoma, is not well-documented.

Purpose of the Study:

  • To report the first known case of pauci-symptomatic Proteus syndrome in adulthood.
  • To describe a rare co-occurrence of Proteus syndrome and advanced melanoma.
  • To underscore the diagnostic significance of subtle cutaneous manifestations in complex conditions.

Main Methods:

  • Clinical case description of a 49-year-old woman.
  • Review of patient's 10-year history of foot lesions initially diagnosed as keloid.
Keywords:
cerebriformdiagnosiselusivehiddenkeloidproteus syndrome

Related Experiment Videos

  • Assessment of subtle clinical signs including facial asymmetry, scoliosis, lipomas, epidermal nevi, and hyperpigmented macules.

    • Main Results:

    • The patient met diagnostic criteria for Proteus syndrome despite a pauci-symptomatic presentation.
    • The case represents the first documented instance of pauci-symptomatic PS in an adult.
    • A rare association between Proteus syndrome and advanced melanoma was observed.

    Conclusions:

    • Subtle and atypical cutaneous signs are crucial for diagnosing complex conditions like Proteus syndrome, even in adults.
    • Pauci-symptomatic Proteus syndrome can occur in adulthood, challenging initial diagnoses.
    • The co-occurrence with advanced melanoma highlights the need for comprehensive patient evaluation.