Complete Information on Cowden's disease

Cowden disease (CD), also known multiple hamartoma syndrome. It is an autosomal dominant condition with variable expression that results most commonly (80%) from a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. It is estimated that CD affects 1 in 300,000 individuals but is underdiagnosed. Both males and females are affected by CD. Onset is usually by the late twenties. CD is caused by mutations of the PTEN tumour suppressor gene on chromosome10. The PTEN protein product controls cell growth by promoting normal cell death. A mutation on the PTEN gene leads to loss of the protein's function.

It can results in overproliferation of cells that organize hamartomatous growths. PTEN is a lipid phosphatase that removes phosphate groups from signaling molecules. This action usually restricts increase and endurance signals, allowing for natural cubicle death. When PTEN is mutated, some cells are allowed to proliferate, sometimes uncontrollably. The disease is inherited as an autosomal predominant circumstance. Cowden syndrome is an autosomal predominant circumstance meaning half of a stricken individual's children too have the syndrome.

Other causes GI parcel, bones, CNS, eyes, and genitourinary parcel. Males and females inherit the mutated gene in equivalent numbers as it is autosomal predominant. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. Cutaneous manifestations are related. Treatment of Cowden's disease includes oral retinoids, e. g. acitretin that may temporarily curb some of the cutaneous lesions.