Cowden Syndrome

HomeRadioGraphicsVol. 42, No. 2 PreviousNext Cases from the Cooky JarFree AccessCowden SyndromePatricia Balthazar , Michail E. Klontzas, Lauren X.X. Heng, Ciléin KearnsPatricia Balthazar , Michail E. Klontzas, Lauren X.X. Heng, Ciléin KearnsAuthor AffiliationsFrom the Department of Radiology and Imaging Sciences, Emory University School of Medicine, 1365-A Clifton Rd NE, Suite AT-627, Atlanta, GA 30322 (P.B.); Department of Medical Imaging, University Hospital of Heraklion, Heraklion, Crete, Greece (M.E.K.); Northern Arizona University, Flagstaff, Ariz (L.X.X.H.); and Medical Research Institute of New Zealand, Wellington, New Zealand, and Artibiotics, Wellington, New Zealand (C.K.).Address correspondence to P.B. (e-mail: [email protected]).Patricia Balthazar Michail E. KlontzasLauren X.X. HengCiléin KearnsPublished Online:Feb 18 2022https://doi.org/10.1148/rg.210230MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In Cowden syndrome, also known as multiple hamartoma syndrome or PTEN hamartoma tumor syndrome, is a rare autosomal-dominant condition caused by mutations of the PTEN tumor suppressor gene (1,2), leading to uncontrolled cell proliferation (Fig 1), which manifests as multisystem hamartomas and malignancies (Fig 2) (2). Patients with Cowden syndrome are at increased risk for breast, thyroid, colon, kidney, and endometrial malignancies (1).Figure 1. Comic depicts the pathophysiology of PTEN as a tumor suppressor gene. (See also Fig E1.) (Reprinted, with permission, from Ciléin Kearns, Artibiotics, Copyright © 2022.)Figure 1.Download as PowerPointOpen in Image Viewer Figure 2. Illustration depicts the manifestations of Cowden syndrome. (Reprinted, with permission, from Ciléin Kearns, Artibiotics, Copyright © 2022.)Figure 2.Download as PowerPointOpen in Image Viewer Cutaneous manifestations and imaging findings (Fig 3) may predate the development of malignancy, rendering early recognition of Cowden syndrome important for risk assessment and cancer screening. Multiple facial trichilemmomas (benign follicular epithelial tumors) are characteristic (1). Other cutaneous manifestations include sclerotic fibromas, palmoplantar keratosis, and oral papillomas (1,2). Benign imaging findings include esophageal glycogenic acanthosis; gastrointestinal polyposis; breast papillomas and fibrocystic changes; multinodular goiter; testicular lipomatosis; Lhermitte-Duclos disease; vascular malformations; lipomas; uterine fibroids; endometriosis; and hamartomatous lesions in the liver, pancreas, and spleen (1,2).Figure 3. Multisystem findings in Cowden syndrome. (A) Photograph shows multiple keratotic papules at the palmar surface of the hand, findings compatible with acral keratosis. (B) Spot endoscopic image shows multiple whitish plaquelike esophageal nodules, findings consistent with glycogenic acanthosis. (C) Coronal chest CT image shows esophageal wall plaquelike irregularity due to glycogenic acanthosis. (D) Longitudinal US images of the bilateral testes show multiple small nonshadowing intratesticular hyperechoic masses, compatible with testicular lipomatosis. The testes are normal in size and contour. (E) Coronal T1-weighted postcontrast MR image of the brain shows hypointense nonenhancing striation in the right cerebellum. (F) Axial fluid-attenuated inversion-recovery MR image of the brain shows a hyperintense right cerebellar ill-defined lesion without significant edema, consistent with Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma).Figure 3.Download as PowerPointOpen in Image Viewer The recommended screening regimen for patients with Cowden syndrome includes colonoscopy and esophagogastroduodenoscopy starting at age 15 years (usually biannually, but follow-up frequency may vary according to polyp burden), annual thyroid US starting at age 18 years, annual endometrial biopsy and transvaginal US in women starting at age 30–35 years, mammography and breast MRI in women starting at age 30–35 years, and annual or biannual renal US starting at age 40 years (2).Disclosures of Conflicts of Interest.— P.B. Editorial board member of RadioGraphics; travel reimbursement from American College of Radiology. C.K. Editorial board member of RadioGraphics.P.B. and C.K. have reported disclosures (see page E44); all other authors have disclosed no relevant relationships.References1. Lee MH, Lubner MG, Peebles JK, et al. Clinical, imaging, and pathologic features of conditions with combined esophageal and cutaneous manifestations. RadioGraphics 2019;39(5):1411–1434. Link, Google Scholar2. Katabathina VS, Menias CO, Khanna L, et al. Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. RadioGraphics 2019;39(5):1280–1301. Link, Google ScholarArticle HistoryReceived: Nov 22 2021Accepted: Nov 29 2021Published online: Feb 18 2022Published in print: Mar 2022 FiguresReferencesRelatedDetailsRecommended Articles Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and ManagementRadioGraphics2019Volume: 39Issue: 5pp. 1280-1301Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous ManifestationsRadioGraphics2019Volume: 39Issue: 5pp. 1411-1434Genetic Syndromes Associated with Central Nervous System TumorsRadioGraphics2016Volume: 37Issue: 1pp. 258-280Radiologist’s Primer on Imaging of Common Hereditary Cancer SyndromesRadioGraphics2019Volume: 39Issue: 3pp. 759-778Spectrum of Extratesticular and Testicular Pathologic Conditions at Scrotal MR ImagingRadioGraphics2018Volume: 38Issue: 3pp. 806-830See More RSNA Education Exhibits Multimodality Imaging Of Hamartomas: An Interactive Case Based ApproachDigital Posters2021Hereditary Cancer Predisposition SyndromesDigital Posters2019Be Sceptical, Save A Testicle: Sonographic Features Of Benign Intratesticular Lesions That Can Mimic MalignancyDigital Posters2021 RSNA Case Collection Dysplastic cerebellar gangliocytomaRSNA Case Collection2020Testicular LipomatosisRSNA Case Collection2022Pulmonary HamartomaRSNA Case Collection2021 Vol. 42, No. 2 Supplemental MaterialMetrics Altmetric Score PDF download