Autosomal Dominant Inherited Cowden's Disease in a Family

Abstract

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

Syndrome In Question

“…However, some cases with atypical presentations do not meet all criteria ( Chart 1 ). 5 The patient has four pathognomonic injuries: papillomas in the oral mucosa, oral mucosal lesions, benign acral keratoses, and facial trichilemmomas. One major criterion: confirmed thyroid neoplasia.…”

“… 6 Clinical and gynecological follow-up is necessary and should include exams that allow early detection of malignant neoplasms, such as mammography, endometrial biopsy, thyroid ultrasound and digestive endoscopy. 5 , 6 …”

Clinical manifestations of gastrointestinal diseases in the oral cavity

“…Cowden’s syndrome (CS), also known as multiple hamartoma or neoplasia syndrome or multiple hamartoma syndrome, is a rare hereditary autosomal-dominant disorder characterized by the development of hamartomatous papules and nodules of the skin and oral mucosa and polyposis of the gastrointestinal tract, as well as an increased risk of developing thyroid, breast, and endometrial cancers ( Porter et al, 1996 , Ha, 2013 ). The estimated prevalence of CS is about 1 in 200,000 ( Ha, 2013 ). In addition, females are affected slightly more than males ( Segura Saint-Gerons, et al, 2006 ).…”

A Case with Cowden Syndrome

“…Görülme sıklığı 1/200,000-250,000'dir (3,4). Sendromda özellikle meme, tiroid, endometrium, gastrointestinal sistem ve böbreği içine alan çok sayıda organda artmış malignite riski bulunmaktadır (5 Cowden sendromlu kadın hastaların %5-10'unda endometrium kanseri görülmektedir (18). Testiküler lipomatoz hamartom, seminom, uterin fibroid, ovaryan kistler, ovaryan malformasyonlar, renal hücreli karsinom ve mesane karsinomu görülen diğer genitoüriner sistem anomalileridir (1).…”