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[Kabuki make-up syndrome].

J C de Souza1, T C Ribeiro, R C Ribeiro

  • 1Departmento Médico, Hospital das Forças Armadas, Brasília, DF.

Jornal De Pediatria
|September 1, 1996
PubMed
Summary
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This case study introduces Kabuki make-up syndrome (KMS) in Brazil, detailing diagnostic features like the "Pentad of Niikawa." Wider studies are crucial for identifying more KMS cases.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Context:

  • Kabuki make-up syndrome (KMS) is a rare genetic disorder.
  • This report details the first documented case in Brazil and Latin America.
  • Accurate diagnosis and phenotype characterization are essential for patient management.

Purpose:

  • To report the first case of Kabuki make-up syndrome in Brazil and Latin America.
  • To highlight the diagnostic significance of the "Pentad of Niikawa" for KMS.
  • To describe novel symptoms and signs associated with the KMS phenotype.

Summary:

  • An original case of Kabuki make-up syndrome (KMS) is presented, marking the first occurrence in Brazil and Latin America.
  • The diagnostic utility of the "Pentad of Niikawa" is emphasized, outlining five core features of the syndrome.

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  • Additional potential symptoms and signs contributing to the KMS phenotype are described.

    • Impact:

    • Increases awareness of Kabuki make-up syndrome in South America.
    • Provides a valuable reference for diagnosing KMS in diverse populations.
    • Encourages further research and case identification globally to better understand KMS prevalence and characteristics.