title: Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.
abstract: PTEN hamartoma tumor syndrome refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Cowden syndrome, the principal PTEN-related disorder is characterized by multiple neoplasms and hamartomas, mucosal papillomatosis, and skin lesions, trichilemmomas. Trichilemmomas and mucocutaneous papillomatous papules are one of the first signs of the disease. Early recognition of these skin lesions may help on diagnosing an underlying malignancy and early cancer screening.
authors.affiliation: Harvard Medical School, Boston, MA, USA. vnose@mgh.harvard.edu.|Massachusetts General Hospital, Boston, MA, USA. vnose@mgh.harvard.edu.
authors.forename: Vania
authors.initials: V
authors.lastname: Nosé
mesh_terms: D006223:Hamartoma Syndrome, Multiple / Q000235:genetics / Q000473:pathology; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D009092:Mucous Membrane / Q000473:pathology; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Adult Lhermitte–Duclos disease; Cowden syndrome (CS); Hamartomas; Mucosal papillomatosis; Multiple neoplasms; PTEN hamartoma tumor syndrome (PHTS); Phosphatase and tensin homolog (PTEN) gene; Thyroid adenomatous nodules; Thyroid carcinoma; Trichilemmomas