Cowden Syndrome: report of a case and brief review of literature
A 59-year-old female patient presented with a lifelong history of carcinoma and unclear\ncutaneous and mucocutaneous lesions. Clinical investigation showed firm, flat-topped,\nyellowish papules in the periorbital region and tiny whitish papules of the oral mucosa\n(). Multiple hyperkeratotic verruciform\nlesions on the back of the hand and palmar pits were found (). A macrocephaly above the 97th percentile was\ndiagnosed. The patient's history included breast cancer at the age of 34, an endometrial\ncarcinoma at age 46 and a recently diagnosed malignant melanoma. Furthermore, the\npatient reported adenomas of thyroid, recurrent gastrointestinal polyps and cutaneous\nlipomas and trichilemmomas. She also suffered from kidney cysts, cysts of the fallopian\ntube, cataract, osteoporosis and diffuse hair loss. Her family history showed no\nincidence of multiple hamartoma syndrome.\nLaboratory testing and organ examination did not show any pathologic findings. Histology\nof one periorbital lesion showed a symmetrical epithelial nodular proliferation with\nmild papillomatosis, overlying hiperkeratosis and downgrowth of epithelial cells with\nclear cell differentiation. Histology of one back-of-hand lesion showed regular\northo-and hyperkeratosis ( and ). Genetic analysis finally confirmed heterozygous\ndeletion of nucleotide 968 in exon 8 of the PTEN gene, located on chromosome 10.