S. Uppal1; D. Mistry2; A. P. Coatesworth3

Disclosures

Int J Clin Pract. 2007;61(4):645-652. 

In This Article

Summary and Introduction

Cowden disease is a genetically inherited disorder presenting with multiple hamartomatous and neoplastic lesions in various organs and tissues. We present a review of the diagnostic criteria, clinical presentation, genetics, and management of this condition.

Cowden syndrome (CS) or disease (CD) is an autosomal-dominant disorder associated with multiple hamartomatous and neoplastic lesions of the skin, mucous membranes, thyroid, breast, colon, endometrium and brain.[1] These hamartomas can arise in tissues derived from all three embryonic germ layers, in accordance with prominent expression of the susceptibility gene throughout human embryonic and foetal development.[2] It is one of the 50 cancer-related genodermatoses and was first reported by Lloyd and Dennis in 1963, who named the disease after their patient Rachel Cowden.[3]

The incidence of CS before gene identification was estimated to be one in a million in a Dutch clinical epidemiological study.[4,5] However, after gene identification, this figure has been revised to one in 200,000.[6] It is thought that even this figure underestimates the incidence of CS as CS has variable expression and often presents with subtle skin signs which may be missed. Most reported cases of CS are of Caucasians and there is a female preponderance.[7] CS patients may be diagnosed as early as 13 years or as late as 65 years of age.[8]

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