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Cowden syndrome

A M Hanssen1, J P Fryns

  • 1Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.

Journal of Medical Genetics
|February 1, 1995
PubMed
Summary
This summary is machine-generated.

Cowden syndrome, a familial cancer syndrome, presents with macrocephaly and developmental delays in children. Later signs include mucocutaneous symptoms like trichilemmomas and hamartomas, affecting multiple organ systems.

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Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • Cowden syndrome, also known as multiple hamartoma syndrome, is an autosomal dominant disorder.
  • It affects multiple organ systems and is associated with an increased risk of cancer.
  • Variable expression is a key characteristic of this familial cancer syndrome.

Purpose of the Study:

  • To summarize the key clinical features and diagnostic indicators of Cowden syndrome.
  • To highlight the importance of early recognition in pediatric cases.
  • To provide an overview of the typical progression and associated symptoms.

Main Methods:

  • Review of existing literature on Cowden syndrome.
  • Analysis of characteristic clinical manifestations across different age groups.

Related Experiment Videos

  • Identification of key diagnostic signs in pediatric and adult populations.

    • Main Results:

    • Early childhood signs include progressive macrocephaly, scrotal tongue, and mild to moderate mental retardation.
    • Later childhood symptoms involve mucocutaneous manifestations such as trichilemmomas and palmar/plantar hyperkeratotic pits.
    • Associated findings include subcutaneous lipomas and cutaneous haemangiomas.

    Conclusions:

    • Cowden syndrome requires a high index of suspicion, especially in children presenting with specific early signs.
    • Recognizing the spectrum of mucocutaneous and systemic features is crucial for diagnosis.
    • Timely diagnosis facilitates appropriate management and cancer surveillance.