Disease Information for Cowden disease/CD (10q23.31)

Under construction gene locus 10q23.31, 10q22.3;COWDEN DISEASE: Alternative titles; symbols; COWDEN SYNDROME; CS; CD; MULTIPLE HAMARTOMA SYNDROME; MHAM; COWDEN-LIKE SYNDROME, INCLUDED DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD VI, INCLUDED CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED; LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED; Clinical Synopsis; INHERITANCE : Autosomal dominant ; HEAD AND NECK : Head ;Progressive macrocephaly; Face "Birdlike" facies ; Hypoplastic mandible ; Hypoplastic maxilla; Ears ; Hearing loss ;Eyes; Cataract; Angioid streaks; Myopia; Mouth; Microstomia; High-arched palate; Scrotal tongue; Oral papillomas; CHEST : Ribs and sternum; Pectus excavatum; Breasts; Virginal hyperplasia; Fibrocystic breast disease; Gynecomastia in males ; Breast fibroadenomas; ABDOMEN : Gastrointestinal ; Hamartomatous polyps; Colon diverticula; GENITOURINARY : External genitalia, male; Hydrocele; Varicocele ; External genitalia, female; Vaginal cysts; Vulvar cysts ; Internal genitalia, female; Ovarian cysts; Leiomyomas ; SKELETAL : Spine; Scoliosis ; Kyphosis; SKIN, NAILS, HAIR : Skin; Multiple facial papules; Acral keratoses ; Palmoplantar keratoses; Multiple skin tags; Facial trichilemmomas ; Subcutaneous lipomas; NEUROLOGIC : Central nervous system; Seizure; Intention tremor ; Lhermitte-Duclos disease ; Mild to moderate mental retardation in 12%; Mild to moderate psychomotor delay ; Cerebellar gangliocytoma manifesting as seizure and tremor; ENDOCRINE FEATURES : Goiter; Thyroid adenoma; Hyperthyroidism; Hypothyroidism; Thyroiditis; NEOPLASIA : Breast cancer; Ovarian carcinoma ; Cervical carcinoma; Uterine adenocarcinoma; Thyroid cancer (follicular cell); Transitional cell carcinoma of the bladder; Colon adenocarcinoma; Meningioma; MISCELLANEOUS : Allelic with Bannayan-Riley-Ruvalcaba syndrome; MOLECULAR BASIS : Caused by mutations in the phosphatase and tensin homolog gene (PTEN,); Gene map locus 10q23.31, 10q22.3; Cowden disease is caused by germline mutation in the PTEN gene. A Cowden-like syndrome has been found to be caused by mutation in the BMPR1A gene; CLINICAL FEATURES ; Multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid, are encountered; Verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa, and multiple facial trichilemmomas are leading findings; Hamartomatous polyps of the colon and other intestines occur also; acute myelogenous leukemia reported ;Breast cancer as well; anticipation occurs with earlier symptoms each generation--------------[OMIM 2004]--------------

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