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KMID : 0359020130460010085
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Korean Journal of Gastrointestinal Endoscopy
2013 Volume.46 No. 1 p.85 ~ p.90
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Autosomal Dominant Inherited Cowden’s Disease in a Family
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Ha Jun-Wook
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Abstract
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Cowden’s disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden’s diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.
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KEYWORD
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Multiple hamartoma syndrome, Intestinal polyposis, Papilloma, Macrocephaly
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