Cowden disease

(Cowden is the family name of the first reported case) (also called multiple hamartoma syndrome (MHS)), autosomal dominant inherited condition characterized by multiple hamartomas and neoplasms of ectodermal, mesodermal and endodermal origin. It occurs mainly in white persons and the mean age at the time of the diagnosis is 41 years.

Mucocutaneous lesions consist of multiple facial trichilemmomas and are most commonly located around the mouth, nose and eyes, but are also frequently observed on the distal extremities, including the palms and the soles. Oral mucosal lesions include fibromas on the gingival, alveolar and palatal surfaces. In the thyroid nodular hyperplasia, follicular adenoma and follicular carcinoma can occur in a substantial number of these patients. Three quarters of affected females have breast lesions including fibrocystic disease and fibroadenomas. Breast carcinoma, frequently bilateral, occurs at a young age in nearly 50% of female patients affected with Cowden disease. A long series of other associated neoplasms are described in these patients. These neoplasms include: haemangiomas; lipomas; lymphangiomas; neurofibromas; uterine leiomyomas and carcinomas as well as meningiomas. Cranial anomalies include: hypoplastic mandible; a prominent forehead and a high-arched palate. Gastrointestinal polyps including lipomas, juvenile polyps, inflammatory polyps, ganglioneuromas and lymphoid hyperplasia are revealed in about one third of the patients with Cowden disease.

The MHS hamartomas are smaller, sessile and with less exophytic and arborising proliferation of the muscularis mucosae than the Peutz Jeghers hamartomas (see Peutz Jeghers syndrome). They consist in a protuberance of normal epithelium, cystic dilatation of the glands, fibrosis of the lamina propria and extension of the muscularis mucosae into the lamina propria. MHS polyps are not potentially malignant and can occur in any segment of the gastrointestinal tract but have a predilection for the rectosigmoid colon. MHS polyps are usually clinically asymptomatic. Double contrast barium studies are best suited to reveal the small, sessile and commonly multiple polyps. Radiological imaging plays an important role in the clinical follow-up of patients with MHS because it will help to detect at an early stage those individuals that present with associated breast, uterus or thyroid malignancy.

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