Cowden syndrome

Common card · No. 422555

Cowden syndrome (also known as Cowden's disease) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is also known as multiple hamartoma syndrome, a name shared by a more general syndrome of the same name. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite rare. Because the diagnosis of Cowden's syndrome is difficult to establish, this incidence is suspected to be an underestimation. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations...

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