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Related Experiment Videos

Cardiofaciocutaneous (CFC) syndrome.

C Schepis1, D Greco, C Romano

  • 1Unit of Dermatology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, Italy.

The Australasian Journal of Dermatology
|May 20, 1999
PubMed
Summary

Cardiofaciocutaneous syndrome, a rare genetic disorder, presents with developmental delays, seizures, heart defects, and distinct facial features. This case highlights its unique presentation and discusses its relationship with Noonan syndrome.

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Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder characterized by a spectrum of developmental abnormalities.
  • It shares overlapping features with other RAS/MAPK pathway syndromes, necessitating careful differential diagnosis.

Observation:

  • An 11-year-old boy presented with mental retardation, seizures, and congenital heart defects.
  • He exhibited sparse scalp hair, alopecia of eyebrows and eyelashes, dry skin, and horny papules in affected areas.
  • These clinical findings are consistent with the diagnostic criteria for CFC syndrome.

Findings:

  • The patient's constellation of symptoms, including developmental delay, epilepsy, cardiac anomalies, and specific dermatological findings, supports the diagnosis of CFC syndrome.

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  • The presence of dysmorphic features and ectodermal abnormalities are key indicators.

    • Implications:

    • This case underscores the importance of recognizing the diverse clinical manifestations of CFC syndrome in pediatric patients.
    • Understanding the relationship between CFC syndrome and Noonan syndrome aids in accurate diagnosis and genetic counseling.
    • Further research into the genetic underpinnings and therapeutic strategies for CFC syndrome is warranted.