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Macrodactyly in Proteus syndrome

H Miura1, Y Uchida, K Ihara

  • 1Department of Orthopaedic Surgery, Kyushu University, Fukuoka, Japan.

Journal of Hand Surgery (Edinburgh, Scotland)
|June 1, 1993
PubMed
Summary
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Proteus syndrome is a rare condition causing overgrowth. This case highlights unique macrodactyly presentation in a 13-year-old boy, emphasizing its distinct characteristics and poor prognosis.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Orthopedics

Background:

  • Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth.
  • It presents with diverse and asymmetric somatic abnormalities.

Observation:

  • A 13-year-old boy with Proteus syndrome presented with macrodactyly, hemihypertrophy, skull exostosis, epidermal nevi, palmar/plantar masses, and scoliosis.
  • Macrodactyly affected the left thumb and was surgically treated.
  • Unusual for macrodactyly, digital nerve hypertrophy and subcutaneous fat proliferation were absent.

Findings:

  • The macrodactyly in this Proteus syndrome case lacked typical histopathological features.
  • This presentation suggests a unique manifestation of macrodactyly within the syndrome.

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Implications:

  • Differentiating macrodactyly associated with Proteus syndrome from other forms is crucial due to its poorer prognosis.
  • Early recognition and distinction are vital for appropriate patient management and counseling.