Variable expressivity and novel PTEN mutations in Cowden syndrome

Cowden syndrome (CS) is a PTEN-associated condition characterized by multiple mucocutaneous hamartomas and an increased risk of malignancies. We reported an isolated case and one family with several individuals affected by CS. The isolated case showed typical features including fibrocystic breast disease, benign thyroid nodules and multiple papillomatous lesions in the face and oral cavity and was caused by a novel nonsense mutation (c.940G>T) in PTEN. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts and glaucoma, whereas her family revealed multiple members with intestinal polyps and a sister with breast cancer diagnosed at early age.

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