Cowden disease: a review

Abstract

Cowden disease is a genetically inherited disorder presenting with multiple hamartomatous and neoplastic lesions in various organs and tissues. We present a review of the diagnostic criteria, clinical presentation, genetics, and management of this condition.

AKT activation promotes PTEN hamartoma tumor syndrome–associated cataract development

“…Clinical presentation of Cowden's disease is complex, like other PHTS disorders, and covers a broad spectrum of health problems that often involve cancer and include abnormalities of the eye in approximately 13% of cases (4). Lens cataract is a common pathology among Cowden's disease patients with ocular involvement, and germline PTEN mutations have been confirmed in PHTS cases in which cataract is present (3)(4)(5)(6)(7). Although global Pten deletion in mice is lethal (8), many tissue-specific KO models have been generated to examine the role of Pten mutation and/or deletion in different types of cancers linked to PHTS (1).…”

“…1). The best-described syndrome within PHTS is Cowden's disease (2), where PTEN mutations have been identified in more than 80% of patients (1,3). Clinical presentation of Cowden's disease is complex, like other PHTS disorders, and covers a broad spectrum of health problems that often involve cancer and include abnormalities of the eye in approximately 13% of cases (4).…”

“…Class I PI3Ks are lipid kinases acting downstream of cell surface receptors to phosphorylate the 3′-hydroxyl group of phosphatidylinositol-(4,5)P 2 . The generated phosphatidylinositol-(3,4,5)P 3 (PIP 3 ) activates additional signaling pathways to regulate cell growth, proliferation, motility, and survival (11). One of the most well-characterized functions of PIP 3 is activation of the protein kinase AKT.…”

Oral Mucosa in Systemic Diseases and Syndromes

“…Cowden sendromu (hastalığı) deri, mukozalar, meme ve tiroid başta olmak üzere çeşitli organlarda hamartomatöz ya da neoplastik lezyonlara yol açar 28 . Cowden hastalığında oral lezyonların görülme sıklığı %80'in üzerinde olup, bazen deri lezyonlarından önce ortaya çıkabilir 29 .…”

“…Bu lezyonlar klinik açıdan Heck hastalığı, lenfanjiyom, tuberöz sklerozun oral fibröz nodülleri, Goltz sendromunun oral fibromu, MEN 2B sendromundaki mukozal nöromlar, lipoid proteinoz ve piyojenik granülom ile ayırıcı tanıya girer. Skrotal dil, dişlerin yanlış yerleşmesi ve erken dökülmesi ağzı ilgilendiren diğer belirtilerdir 28 .…”