Cowden Disease
| Autor: | Garofola C; Lewis Gale Montgomery, Jamal Z; Rawalpindi Medical University, Rawalpindi, Gross GP; Lewis Gale Hospital Montgomery |
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| Jazyk: | angličtina |
| Zdroj: | 2022 Jan. |
| Abstrakt: | Cowden disease, also known as Cowden syndrome or multiple hamartoma syndrome, is a genodermatosis originally described in 1963 by Lloyd and Dennis. It is an uncommon condition that is inherited in an autosomal dominant fashion and is part of a spectrum of other disorders that have mutations in the phosphatase and tensin homolog gene ( PTEN ). Cowden syndrome represents the most common phenotypical presentation of this spectrum and classically is characterized by multiple hamartomas that can occur in any organ. Characteristically, patients with Cowden syndrome develop mucocutaneous lesions and macrocephaly. The majority of patients affected with the disease go on to develop a malignant neoplasm of the thyroid, endometrium, or breast. An interprofessional approach to treatment is necessary, with cancer screening tests paramount. Medications currently being studied show encouraging results. (Copyright © 2022, StatPearls Publishing LLC.) |
| Databáze: | MEDLINE |
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