Cowden’s syndrome affecting the mouth, gastrointestinal, and central nervous system: A case report and review of the literature Jair C. Lea ˜o, BDS, MSc, PhD, a Virgı ´nia Batista, MD, b Patrı ´cia B. Guimara ˜es, MD, b Josemir Belo, MD, c and Stephen R. Porter, MD, PhD, FDS, RCS, FDS, RCSE, d Recife, Brazil, and London, UK UNIVERSIDADE FEDERAL DE PERNAMBUCO AND UNIVERSITY OF LONDON Cowden’s syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable phenotype, principally characterized by the formation of hamartomas in various organs, including skin, thyroid, breast, brain, and gastrointestinal tract and by the increased risk for the development of malignancy. The present report details the features of a very rare presentation of Cowden’s syndrome affecting not only the mouth and gastrointestinal mucosa but also the central nervous system. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005;99:569-72) Cowden’s syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable pheno- type, principally characterized clinically by multiple hamartomas of ectodermic, mesodermic, or endodermic origin. 1 Although the majority of the associated tumors are benign, the prevalence of malignancy, particularly breast and thyroid carcinomas, in affected patients is greater than in the general population. 2 The present report details the features of a very rare presentation of a 38-year-old male patient with Cowden’s syndrome affecting not only the mouth and gastrointestinal mucosa but also the central nervous system. CASE HISTORY A 38-year-old male was referred to the Hospital das Clı ´nicas, Recife, Brazil, complaining of multiple swellings of the mouth that had progressively increased in size and number over the previous 20 years. The patient was single and unemployed, had no siblings, and denied any use of tobacco or alcohol. The only notable feature of his previous medical history was an ankle surgery for unknown reasons. Extraoral examination re- vealed a single fibrous nodule of approximately 1.5 cm in diameter, on the skin of the forehead. Intraorally there were multiple, confluent, and asymptomatic papules on the upper and lower labial mucosa and ventral surface of the tongue and gingiva (Fig 1). Based upon the clinical features, particularly the presence of multiple mucocuta- neous nodules, a working diagnosis of Cowden’s syn- drome was made. A series of additional investigations were undertaken to establish the definitive diagnosis and search for other manifestations of this disease and more importantly search for possible associated malignancy. Laboratory investigation was divided into 4 steps. First, renal biochemistry and liver function tests were normal as was a full blood cell count. Serum levels of relevant thyroid hormones (T3, T4, and TSH) were within the normal limits. There was no clinical evidence of goiter, but ultrasound scan of the thyroid gland revealed echoing nodules of approximately 0.3 cm on the right lobe. Subsequent histopathologic examination of a fine needle biopsy revealed features of Hashimoto’s thyroiditis. Also, histopathologic examination of an oral nodule revealed features of fibroepithelial polyp (Fig 2), although immunohistochemistry of the tissue revealed the presence of human papilloma virus (HPV) within the epithelium. Secondly, plain radiography and computerized tomography of the thorax, laryngotracheoscopy, and ultrasonic scan of the breast did not reveal any pathologies. Thirdly, endoscopy of the upper gastroin- testinal tract revealed esophageal polyps, hiatus hernia, and severe erosive esophagitis (Fig 3). Colonoscopy revealed polyps in the rectum, transverse and ascending colon, and caecum (Fig 4). Histological examination of the polyps revealed these to be hyperplastic and adenomatous. a Professor Adjunto de Estomatologia, Departamento de Clı ´nica e Odontologia Preventiva, Universidade Federal de Pernambuco, Recife, Brazil. Oral Medicine, Division of Maxillofacial Diagnostic, Medical and Surgical Sciences, Eastman Dental Institute for Oral Health Care Sciences, UCL, University of London. b Me ´dica Residente, Servico de Dermatologia, Hospital das Clı ´nicas, Universidade Federal de Pernambuco. c Professor Adjunto Dermatologia, Servico de Dermatologia, Hospital das Clı ´nicas, Universidade Federal de Pernambuco. d Professor, Oral Medicine, Division of Maxillofacial Diagnostic, Medical and Surgical Sciences, Eastman Dental Institute for Oral Health Care Sciences, UCL, University of London. Received for publication May 11, 2004; returned for revision Jul 19, 2004; accepted for publication Aug 18, 2004. 1079-2104/$ - see front matter Ó 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.tripleo.2004.08.032 569