Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
GUIMARAES, Patrícia de Barros et al. Cowden's Syndrome: a new case report. An. Bras. Dermatol. [online]. 2002, vol.77, n.6, pp. 711-720. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962002000600009.
Cowden's Syndrome (CS) or Multiple Hamartoma Syndrome (MHS) is a rare genodermatosis of autossomal-dominant inheritance with variable expressivity. It is characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origins. The organ system that most consistently manifests this syndrome is the skin. Mucocutaneous lesions are present in 99 to 100% of cases. These signs precede the development of cancer by several years, and they serve as important clinical markers for identification of patients at high risk for malignancies of the breast or thyroid. Because of its potentially serious associations with internal malignancy, early and accurate diagnosis is essential. The gene locus for CS has been identified as chromosome 10 q22-23. Mutations in the human tumor suppressor gene, PTEN/MMAC1, located on the 10q23 chromosome, have been implicated in the development of breast cancer. The authors report a case of this rare entity, dealing with a male patient with the clinical characteristics of this syndrome.
Keywords : neoplasms; Hamartoma Syndrome, Multiple.