Cowden syndrome

Cowden syndrome (CS) is an atypical heritable condition typified by several non-cancerous nodules known as hamartomas. Cowden syndrome sufferers additionally are at heightened risk of particular forms of cancer.

CS is believed to be rare, though it is possibly under-detected. It is approximated that CS affects 1 in every two lakh people.

CS is typified by increased chances of developing both non-cancerous and cancerous tumors inflicting breast, thyroid and endometrial lining of the uterus.

Cowden syndrome symptoms

Key signs and symptoms of CS are explicated below:

• Trichilemmomas – skin tags.
• Papillomatous papules.
• Macrocephaly – more than average head circumference or enlarged head.
• Breast fibrocystic disease – A condition typified by existence of malignant breast tissues.
• Greater risk of developing breast cancer, thyroid cancer, kidney cancer, meningoima or endometrial cancer.
• Mentally retarded.
• Tiny bumpy appearance on the facial area.
• Non-malignant brain tumor – Lhermitte Duclos disease.
• Non-malignant thyroid variations – Goiters – An enlarged thyroid gland.
• Hamartomas.
• GI tract Polyposis.
• Lumps noted in mucous membrane, intestinal tract or skin.
• Café au lait spots – pigmented skin lesions that could range from lighter shades to deep browns because of excessive melanosomes in malpighian cells instead of excessive melanocytes.
• Hypopigmentation – Skin loses pigment and turns whiter (paler).
• Lipoma – non-cancerous fatty tumors.
• Fibroma – non-cancerous fibrous tumors.
• Uterine fibroids.

Cowden Syndrome Diagnosis

CS is identified in case an individual has 2 or more major characteristics of either macrocephaly, breast cancer, thyroid cancer, endometrial cancer and 4 or above of the remaining features, or 1 major trait and 1 minor trait.

A blood test could ascertain whether a person is having an alteration or mutation in the PTEN gene which is indicative of CS presence.

Cowden Syndrome Causes

CS is a heritable condition wherein chances of developing cancer and other traits could be passed through generations in a kin. Alterations in the PTEN gene are believed to be causing CS.

Screening choices for CS

Wide-ranging screening choices comprise of:

• Annual physical exam starting at eighteen years of age, or 5-10 years younger than what the earliest cancer identification was found in the kin.
• Annual exam by a skin specialist.
• Annual urine sample analysis.
• Baseline colonoscopy once reaching fifty years of age.

Screening Options for Females

• Breast self-exams to be conducted every month once turned eighteen years of age.
• Annual clinical breast exam starting from twenty-five years of age or 5-10 years below what the foremost breast cancer identification was spotted in the kin.
• Annual mammography and MRI (Magnetic resonance imaging) of the breasts commencing at ages of thirty to thirty-five years or 5-10years below what age the earliest breast cancer detection was in the kin.
• Annual biopsy conducted of endometrial or uterus starting at thirty-five to forty years, or 5-10 years below what was the foremost endometrial cancer identification in the kin.
• Annual trans-vaginal ultrasound scans to be conducted among women in their post-menopausal phase.

Screening choices for Males

• Doing a breast self-exam every month.

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