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Cowden disease results from mutations in the tumor suppressor gene PTEN. The disease is characterized by papules of the mouth, extremities, and face (often tricholemmomas) and frequently by benign or malignant tumors of the breast and thyroid. The authors report on two families with manifestations of Cowden disease. One member of each family met the criteria for Cowden disease but also displayed complex dysmorphisms, including soft-tissue overgrowths, lipomatosis, vascular malformations, and changes in the palms and soles, which resembled Proteus syndrome.
In one of these patients, genetic analysis showed a loss of the wild-type PTEN allele in some soft-tissue lesions, resulting in completely deficient PTEN function (nullizygosity). Other re…