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Cardio-facio-cutaneous syndrome: a case report

Maria Cristina Ribeiro de Castro1, Adriana Moura de Aquino, Carlos Camilo

  • 1Sector of Dermatology, HUCFF-UFRJ, School of Medicine, Universidade Federal do Rio de Janeiro, Brazil.

International Journal of Dermatology
|December 21, 2002
PubMed

Insights

Cardio-facio-cutaneous syndrome, a rare genetic disorder, presents distinct facial features, skin/hair abnormalities, intellectual disability, and heart defects. This report details the first documented case in Brazil, differentiating it from similar conditions like Noonan syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Cardio-facio-cutaneous syndrome (CFC) is a rare genetic disorder.
  • CFC syndrome is characterized by facial dysmorphia, ectodermal abnormalities, intellectual disability, and congenital heart defects.
  • Distinguishing CFC syndrome from Noonan syndrome is crucial due to overlapping features but differing presentations.

Observation:

  • This study presents the first documented case of typical cardio-facio-cutaneous syndrome in Brazil.
  • The patient exhibited characteristic facies, abnormal skin and hair, mental retardation, and congenital heart disease.
  • The case highlights the importance of recognizing CFC syndrome in clinical practice.

Findings:

  • The Brazilian case aligns with the established diagnostic criteria for cardio-facio-cutaneous syndrome.
  • Key differentiating features from Noonan syndrome, such as hyperkeratotic skin lesions and specific hair abnormalities, were noted.
  • The report contributes to the limited literature on CFC syndrome.

Implications:

  • Early and accurate diagnosis of CFC syndrome is vital for appropriate management and genetic counseling.
  • Increased awareness of CFC syndrome can aid in differentiating it from Noonan syndrome and other genetic disorders.
  • This case report expands the geographical understanding of CFC syndrome prevalence.

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