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[Multiple hamartoma syndrome].

R M Pujol1, A Ravella, X Noguera

  • 1Servicio de Dermatología, Hospital San Pablo, Barcelona.

Medicina Cutanea Ibero-Latino-Americana
|January 1, 1988
PubMed
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This study details Cowden's syndrome, a rare genetic disorder, highlighting mucocutaneous lesions and visceral hamartomas in two patients. Dermal fibromas are suggested as a key diagnostic criterion for this multiple hamartoma syndrome.

Area of Science:

  • Medical Genetics
  • Oncology
  • Dermatology

Background:

  • Multiple Hamartoma and Neoplasia Syndrome, also known as Cowden's syndrome, is a rare autosomal dominant disorder.
  • It is characterized by an increased risk of developing benign and malignant tumors, particularly in the breast, thyroid, and endometrium.
  • Genetic mutations in the PTEN gene are commonly associated with Cowden's syndrome.

Observation:

  • The study presents two cases of Cowden's syndrome in a 58-year-old man and a 56-year-old woman.
  • Both patients exhibited typical mucocutaneous manifestations, including various skin lesions.
  • Visceral hamartomas were observed in the thyroid and gastrointestinal tract (polyposis) in both individuals.

Findings:

  • The clinicopathological features of Cowden's syndrome were consistent with established diagnostic criteria.

Related Experiment Videos

  • Dermal or submucous fibromas are proposed as a potential additional diagnostic criterion.
  • The review of associated abnormalities and visceral involvement in multiple hamartoma syndrome provides further insights.

    • Implications:

    • Early and accurate diagnosis of Cowden's syndrome is crucial for timely management and surveillance.
    • Identifying specific clinical features like dermal fibromas can aid in diagnosis.
    • Understanding the spectrum of visceral involvement is essential for comprehensive patient care and risk stratification.