What is Bloom Syndrome?

Cowden syndrome, also known as Cowden syndrome, Cowden syndrome, is a type of autosomal dominant disease caused by germline mutations in the PTEN gene. It is characterized by multiple hamartomas that can affect all three germ layers of the germ cells, and is highly dangerous for breast, uterine, and nonmyeloid thyroid cancers. Classical hamartomas are hairy root sheath tumors, a disease specific to Cowden syndrome.

Cowden syndrome

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Cowden syndrome, also known as Cowden syndrome, Cowden syndrome, is a common disease caused by germline mutations in the PTEN gene.

Before the susceptibility genes for Cowden syndrome were identified, a comprehensive clinical morbidity study estimated the incidence to be 1: 100,000. Since the identification of related genes, the molecular-based incidence of the same population has been estimated at 1: 300,000. Because of the difficulty in identifying this syndrome, the value of the incidence is likely to be underestimated. Its incidence in carriers of genetic mutations is unknown.

Because Cowden syndrome has different and extensive clinical manifestations, the International Cowden Association has developed operable diagnostic standards based on published literature and their respective clinical experience, and has been adopted by the National Network Practice Guidelines. It is particularly important to identify hairy root sheath tumors and papilloma papillomas.

Cowden syndrome usually develops in the 20s, and although the exact penetrance is unknown, it has different manifestations and may be age-related. Between the ages of 30 and 40 years, although any of the features can already appear, 99% of individuals with the disease will have spots of mucosal skin. Because the vast majority of clinical literature on Cowden syndrome is a multi-species and uncommon family report, or case reports from specialists interested in specific organ systems, the specific characteristics of the disease are unclear. Nonetheless, the most common manifestations reported are mucosal skin lesions, thyroid disease, fibrocystic disease and breast cancer, gastrointestinal hamartoma, multiple-issue early-onset uterine leiomyoma, macrocephaly, and mental retardation. Recent data suggest that endometrial cancer should also be one of the constituent cancers of Cowden syndrome.

Although PTEN is the main susceptibility gene for Cowden syndrome, there is a family of Cowden syndromes without PTEN mutations, but found germline mutations with BMPPAIA [109,110]. The latter is a susceptible gene for juvenile polyposis syndrome. Whether BMPPIA is a minor susceptibility gene for Cowden syndrome or whether the family also has covert juvenile polyposis is unknown.