Lingual Papillomas
A 59-year-old man with a history of melanoma (3 years ago) presented to the dermatology clinic for routine surveillance. He had macrocephaly (head circumference in the >97th percentile), as well as multiple trichilemmomas (benign flesh-colored papules) on the face and chest and acral keratosis (wartlike papules) on the hands and feet. He was also noted to have lingual papillomas, which he recalled had been present for many years. The patient had a history of hyperplastic and adenomatous gastrointestinal polyps and a multinodular goiter. Members of his family also had a history of gastrointestinal polyps, thyroid nodules, and macrocephaly. Given this constellation of findings on physical examination and the patient’s personal and family medical history, the Cowden syndrome, a PTEN hamartoma tumor syndrome, was suspected. The Cowden syndrome is a rare, autosomal dominant disorder associated with the presence of hamartomatous tumors, which are disorganized growths that can manifest in different tissue types. The patient was referred for genetic testing, which revealed a c.635−1G→A mutation in the gene encoding the tumor suppressor PTEN. The Cowden syndrome is associated with an increased risk of cancer, and cancer surveillance is important for patients with this condition. The patient’s family was referred for evaluation by a genetic counselor, and the patient continues to undergo regular surveillance.
