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

Clinical Manifestations
Signs & Symptoms
Facies/Bird like
Sunken Cheek Bones
Breast Swelling Bilateral
Virginal Breast Hyperplasia
Multiple facial papules
Palmar keratosis
Skin tags/papillomata/increased sudden new growth
Cobblestone papules gingiva/buccal mucosa
High arched palate
Hypoplasia Narrow Maxilla
Narrow oral aperture/small mouth opening
Oral papillomas
Receding chin deformity
Scrotal Tongue deformity
Action Tremor
Mental Deficiency Child
Progressive macrocephaly/infant/sign
Ovary mass
Psychomotor retardation
Sternum deformities
Clinical Presentation & Variations
Presentation/Breast Carcinoma Young Woman
Associated Diseases & Rule outs
Rule Outs
Gardner syndrome
Associated Disease & Complications
Acute Myelogenous/Myeloblastic Leukemia AML
Adenocarcinoma, breast
Adenocarcinoma, ovary
Adenocarcinoma, uterus
Bladder polyp
Breast fibroadenoma
Breast fibrocystic disease
Breast hamartoma
Carcinoma, bladder, transitional
Cerebellar Gangliocytoma
Cerebellar tumor
Cervix carcinoma
Colon polyp
Diverticulosis, colon
Goiter simple/non-endemic
Hydrocele cord
Hyperthyroidism (Graves disease)
Hypothyroidism (myxedema)
Mandible hypoplasia/Retrognathia
Mental retardation
Micrognathia/congenital small chin
Multiple hamartoma syndrome
Ovarian cyst
Pectus excavatum
Plantar callous/palmar callous keratosis
Thyroid adenoma
Thyroid follicular adenoma
Thyroid papillary carcinoma
Uterine fibroid/leiomyomas
Vaginal cyst
Vulva Cyst
Facial Trichilemmomas
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Anticipation kindred inheritance earlier onset effect
Pathophysiology/Gene locus 10q22.3
Pathophysiology/Gene locus 10q23.31
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary Cancer
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Mutation BMPRIA gene
Pathophysiology/PTEN homolog gene mutation
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hamartoma type neoplasm (ex)
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Phakomatosis/congenital (ex)

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]--------------


External Links Related to Cowden disease/CD (10q23.31)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)