Publications by authors named "Esperanza Martinez Ruiz"

Glomus tumors are benign lesions which often appear as solitary bluish nodules. They can also be multiple, and can be either acquired or congenital. Histopathologically glomus tumors are classified into three different variants: solid glomus tumor, glomangioma, and glomangiomyoma, which is the least frequent type.

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Cowden syndrome is an autosomal dominant genodermatosis, characterized by the presence of multiple hamartomas in the skin, breast, thyroid, gastrointestinal tract, central nervous system, and an increased risk in developing breast and thyroid carcinomas. Over 80 germline mutations of the tumor suppressor gene PTEN, on chromosome 10q23, have been reported in more than 100 unrelated patients and families; however, questions regarding distribution of the mutations in populations from different geographic areas, and phenotypic expression are still unclear. In this study the results are reported of mutation analysis of PTEN in 13 families from Spain and one family of Brazilian origin with Cowden syndrome.

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