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Proteus syndrome.

Ritha de Cássia Capelato Rocha1, Mariani Paulino Soriano Estrella1, Danielle Mechereffe do Amaral1

  • 1Department of Dermatology at Hospital Regional de Presidente Prudente - Universidade do Oeste Paulista (UNOESTE) - Presidente Prudente (SP), Brazil.

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|November 23, 2017
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Summary

Proteus syndrome is a rare genetic disorder causing overgrowth and malformations. This case highlights cerebriform plantar hyperplasia as a key diagnostic sign in a young male patient.

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Area of Science:

  • Genetics and rare diseases
  • Dermatology and developmental biology

Background:

  • Proteus syndrome is a rare disorder characterized by asymmetric overgrowth, hamartomas, and vascular malformations.
  • Cerebriform connective tissue nevi (cerebriform plantar hyperplasia) are a hallmark sign, often pathognomonic.

Observation:

  • A 2-year-old male presented with progressive right-sided hemibody asymmetry after birth.
  • The patient exhibited cerebriform plantar hyperplasia and port-wine stains.

Findings:

  • The case presents classic features of Proteus syndrome, emphasizing the diagnostic significance of cerebriform plantar hyperplasia.
  • Early and progressive hemihyperplasia was noted.

Implications:

  • Early recognition of Proteus syndrome is crucial for management and genetic counseling.
  • This case underscores the importance of identifying pathognomonic signs like cerebriform plantar hyperplasia for timely diagnosis.