๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
COWDEN SYNDROME (MULTIPLE HAMARTOMA SYNDROME)
COWDEN SYNDROME (MULTIPLE HAMARTOMA SYNDROME) ICD-10: Q85.9
โข Cowden syndrome (named after the propositus) is a rare, autosomal-dominant heritable cancer syndrome with variable expressivity in a number of systems in the form of multiple hamartomatous neoplasms of ectodermal, mesodermal, and endodermal origin.
โข Germ-line mutations in the tumor-suppressor gene PTEN are located on chromosome 10q22โ23 in most cases.
โข There is a special susceptibility for breast and thyroid cancers, and the skin lesions are important markers.
โข Skin lesions may appear first in childhood and develop over time. They consist of trichilemmomas, skin-colored, pink (Fig. 19-11A), or brown papules and have the appearance of flat warts on the central area of the face, lips, and the ears; translucent punctate keratoses of the palms and soles; and hyperkeratotic, flat-topped papules on the dorsa of the hands and forearms. Mucous membranes: papules of the gingival, labial (Fig. 19-11B), and palatal surfaces that coalesce, giving a โcobblestoneโ appearance. Papillomas of the buccal mucosa and the tongue.
โข In addition to breast cancer (20%), which is often bilateral, and thyroid cancer (8%), there are various internal hamartomas:
โข Breast: Fibrocystic disease, fibroadenomas, adenocarcinoma, and gynecomastia in males.
โข Thyroid: Goiter, adenomas, thyroglossal duct cysts, and follicular adenocarcinoma.
โข GI tract: Hamartomatous polyps throughout tract but increased in large bowel; adenocarcinoma arising in polyp.
โข Female genital tract: Ovarian cysts and menstrual abnormalities.
โข Musculoskeletal: Craniomegaly, kyphoscoliosis, โadenoidโ facies, and higharched palate.
โข CNS: Mental retardation, seizures, neuromas, ganglioneuromas, and meningiomas of the ear canal.
โข It is important to establish the diagnosis of Cowden syndrome so that these patients can be followed carefully to detect breast and thyroid cancers early.
A
B
FIGURE 19-11 โข Cowden syndromeโ(A) Multiple skin-colored warty papules on the face, which represent trichilemmomas. (B) Multiple reddish, confluent papules on the oral mucosa giving a cobblestone appearance.