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[Cowden's disease].

B Nudenberg, A Pöex, L Escovich

    Medicina Cutanea Ibero-Latino-Americana
    |January 1, 1977
    PubMed
    Summary
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    This case report details Cowden disease (Multiple Hamartoma Syndrome) in a 32-year-old female. The patient presented with various symptoms including breast cancer, gastric polyposis, and characteristic skin and oral lesions.

    Area of Science:

    • Dermatology
    • Oncology
    • Genetics

    Background:

    • Cowden disease, also known as Multiple Hamartoma Syndrome, is a rare genetic disorder.
    • It is characterized by an increased risk of developing benign and malignant tumors, particularly in the breast, thyroid, and endometrium.
    • Genetic mutations, often in the PTEN gene, are implicated in its pathogenesis.

    Observation:

    • A 32-year-old female presented with a typical, yet sporadic, case of Cowden disease.
    • She had a history of bilateral fibrocystic breast disease with carcinomatous degeneration requiring mastectomy.
    • Clinical examination revealed an asymptomatic thyroid nodule, multiple gastric polyposis, and characteristic mucocutaneous lesions including papillomas, hyperkeratosis, and perleches.

    Findings:

    • The patient exhibited a constellation of findings consistent with Cowden disease, despite lacking a family history.

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  • Histopathological examination confirmed carcinomatous degeneration in the breast tissue.
  • Radiological imaging identified multiple gastric polyposis.

    • Implications:

    • This case highlights the importance of recognizing Cowden disease even in the absence of a familial link.
    • Early diagnosis and comprehensive screening are crucial for managing cancer risks associated with this syndrome.
    • Further research into the genetic and phenotypic variability of Cowden disease is warranted.