Cowden Disease

Cowden disease is an uncommon autosomal dominant disorder and is the family name of the original report patient, Rachel Cowden. This syndrome is a rare disorder that is inherited in autosomal dominant manner with intrafamilial and interfamilial differences in symptom expression. In Cowden disease, one sees facial trichilemmomas, acral keratosis and oral mucosal papillomas. This disorder is also associated with breast and thyroid cancer. There are numerous colic and small-intestinal polyps. They have been described as hamartomatous lesions [13] consisting of mildly fibrotic, mildly disordered mucosa overlying a submucosa that display disorganisation and splaying of smooth-muscle fibres. These lesions show some similarities to the pathology seen in solitary rectal ulcer syndrome. Other authors reported polyps that they described as inflammatory lesions, lipomas and ganglioneuromas. There is no increased risk for GI cancers in this disorder [14].

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