Abstract
Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are hamartomas of the skin, breast, thyroid, oral mucosa and intestinal epithelium. The pathognomonic hamartomatous features of CD include multiple smooth facial papules, acral keratosis and multiple oral papillomas1,2. The pathological hallmark of the facial papules are multiple trichilemmomas3. Expression of the disease is variable and penetrance of the dermatological lesions is assumed to be virtually complete by the age of twenty4. Central nervous system manifestations of CD were emphasized only recently and include megalencephaiy, epilepsy and dysplastic gangliocytomas of the cerebellum (Lhermitte-Duclos disease, LDD)5–7. Early diagnosis is important since female patients with CD are at risk of developing breast cancer. Other lesions include benign and malignant disease of the thyroid, intestinal polyps and genitourinary abnormalities4,8–10. To localize the gene for CD, an autosomal genome scan was performed. A total of 12 families were examined, resulting in a maximum lod score of 8.92 at θ = 0.02 with the marker D10S573 located on chromosome 10q22–23.
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Nelen, M., Padberg, G., Peeters, E. et al. Localization of the gene for Cowden disease to chromosome 10q22–23. Nat Genet 13, 114–116 (1996). https://doi.org/10.1038/ng0596-114
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DOI: https://doi.org/10.1038/ng0596-114
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