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[Cowden's syndrome]

M Krasovec1, P Elsner, G Burg

  • 1Dermatologische Klinik, Universitätsspital, Zürich.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|July 1, 1995
PubMed
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Cowden's disease, a genetic disorder, presents with varied skin and mucous membrane growths. This case highlights typical symptoms and suggests a screening checklist for early detection and management of this hamartoma and neoplasia syndrome.

Area of Science:

  • Genetics and Dermatology
  • Oncology
  • Clinical Medicine

Background:

  • Multiple hamartoma and neoplasia syndrome, also known as Cowden's disease, is an autosomal dominant disorder.
  • It is characterized by variable expressivity, meaning symptoms can differ significantly among affected individuals.
  • This condition predisposes individuals to various benign and malignant neoplasms.

Observation:

  • A case study of a woman exhibiting classic mucocutaneous manifestations of Cowden's disease.
  • Observed features included facial papules, acral keratoses, oral mucosal papillomatosis, oral polyps, and scrotal tongue.
  • The patient also had a history of strabismus in childhood and chronic lymphocytic thyroiditis.

Findings:

  • The patient's family history was positive for Cowden's disease, with a sister having died from malignant melanoma.

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  • The described mucocutaneous features are highly indicative of Cowden's disease.
  • Associated conditions like thyroiditis were noted during the patient's check-up.
  • Implications:

    • The case underscores the importance of recognizing the diverse clinical presentations of Cowden's disease.
    • A proposed checklist aims to aid clinicians in screening and diagnosing patients with this syndrome.
    • Early identification and management are crucial due to the increased risk of malignancies associated with Cowden's disease.