Cowden-Syndrom

Abstract

Multiple hamartoma and neoplasia syndrome, or Cowden's disease, is a genodermatosis inherited as an autosomal dominant trait with variable expressivity. We describe a woman with classic mucocutaneous features of the syndrome: facial papules, acral keratoses, oral mucosal papillomatosis, oral polyps and scrotal tongue. As a child she had strabismus. Her family history is positive for the disease, and a sister died of malignant melanoma. The check-up revealed chronic lymphocytic thyroiditis. A checklist for use in screening patients with Cowden's disease is proposed.

Cowden disease: a review

“…Baseline studies should include thyroid function tests, thyroid scanning, full blood count, urine analysis, mammography and chest radiography (44,87). Due to low potential for malignant degeneration in gastrointestinal tract polyps, screening in the absence of symptoms is not generally indicated (26).…”

Cowden Syndrome – Diagnostic Skin Signs

“…There is no known therapy to actually prevent the development of carcinoma. Baseline studies should include thyroid function tests, thyroid scanning, complete blood count, urinalysis, mammography and chest radiography [19, 36]. Due to the low potential for malignant degeneration of gastrointestinal polyps, screening in the absence of symptoms is not generally indicated [37].…”