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Proteus syndrome

G L Darmstadt1, A T Lane

  • 1Department of Dermatology, Stanford University School of Medicine, California.

Pediatric Dermatology
|September 1, 1994
PubMed
Summary
This summary is machine-generated.

Proteus syndrome is a rare overgrowth disorder characterized by macrodactyly and hemihypertrophy. This case highlights key diagnostic features in a 10-month-old girl.

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Area of Science:

  • Medical Genetics
  • Dermatology
  • Pediatrics

Background:

  • Proteus syndrome is a rare congenital disorder characterized by mosaic overgrowth.
  • Early diagnosis is crucial for managing associated complications.

Observation:

  • A 10-month-old female infant presented with macrodactyly, hemihypertrophy of the face and extremities, and plantar cerebriform hyperplasia.
  • Additional findings included a dorsal subcutaneous mass, macrocephaly, and lumbar kyphosis.

Findings:

  • The constellation of clinical features led to a diagnosis of Proteus syndrome.
  • The case underscores the importance of recognizing the diverse phenotypic manifestations.

Implications:

  • Understanding Proteus syndrome aids in differential diagnosis and appropriate patient management.
  • Further research into the genetic basis and therapeutic strategies for Proteus syndrome is warranted.