%0 Journal Article
%T Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations
%A Prashanthi Chippagiri
%A Spoorthi Banavar Ravi
%A Neha Patwa
%J Case Reports in Dentistry
%D 2013
%I Hindawi Publishing Corporation
%R 10.1155/2013/315109
%X Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important. 1. Background Cowden syndrome (CS), also termed as multiple hamartoma syndrome, was first described in 1940 by Salem and Steck [1]. CowdenĄŻs syndrome was defined and named by Lloyd and Dennis in 1963 referring to their patient Rachael Cowden, who died of breast carcinoma [2, 3]. Weary and coworkers reported 5 more patients in 1972 and suggested the name multiple hamartoma syndrome (MHS) [2, 4]. CowdenĄŻs syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable phenotype, principally characterized clinically by multiple hamartomas of ectodermic, mesodermic, or endodermic origin. It results most commonly from the mutation in the PTEN gene on the arm 10q [5]. CowdenĄŻs syndrome is associated with an increased risk of malignancy, particularly cancers of the breast, thyroid, endometrium, and to a lesser extent, renal system [6]. The rare occurrence of this disease and the synchronous association of various malignancies with this disease emphasize the importance of a thorough diagnostic work-up and management of the patients with cowdenĄŻs syndrome. The present report thus, details the features of a patient who initially presented with oral swellings and was subsequently found to have CowdenĄŻs syndrome. 2. Case Report A 30-year-old female patient came with a complaint of multiple growths in the oral cavity of three months duration. Initially, she had noticed only two growths in the right and left retrocomissural areas. Gradually they increased in number, involving the entire oral cavity. The lesions were not associated
%U http://www.hindawi.com/journals/crid/2013/315109/