Definition

Cowden syndrome is an uncommon hereditary condition characterized by the presence of benign tumors called hamartomas. This syndrome is associated with an elevated susceptibility to multiple types of cancer, particularly breast, uterine, and thyroid cancer. Individuals diagnosed with Cowden syndrome typically have macrocephaly and may experience developmental or cognitive impairment. The term ‘Cowden syndrome’, sometimes known as Cowden disease, was initially documented in 1963 and subsequently named after the family presenting signs of this condition. Cowden syndrome is a member of a cluster of diseases characterized by mutations in the PTEN gene. The PTEN gene serves as a tumor suppressor gene, inhibiting the growth of tumors.

Causes

An inherited mutation or genetic defect is the cause of Cowden syndrome. Cowden syndrome is characterized by uncontrolled cell growth and abnormal cell death. Consequently, the proliferating cells will develop into benign tumors (hamartomas) or non-metastatic growths.

Cowden syndrome is an autosomal dominant genetic mutation, indicating that it is inherited from the parents. For instance, if one parent has Cowden syndrome, there is a 50% chance that their children will also have this genetic condition.

Risk factor

Cowden syndrome is a hereditary genetic disorder. The only identified risk factor for Cowden syndrome is a familial history. There is a significant risk of Cowden syndrome if you have a history of family members who have been identified with this abnormality.

Symptoms

Cowden syndrome symptoms are usually noticeable before the age of 20. Cowden syndrome commonly develops in adulthood. Patients diagnosed with Cowden syndrome will seek medical treatment for hamartoma or early-onset cancer. Common symptoms of Cowden syndrome include a higher risk of cancer and the occurrence of tumor-like growths (hamartomas) in multiple locations, characterized by numerous major symptoms.

Hamartoma can occur in several locations on the body, although it typically manifests on the neck, face, or head. Hamartomas may stimulate different pain levels and discomfort depending on their location, as they could cause pressure on surrounding organs and tissues. Alternatively, they may be asymptomatic and not cause any pain. There are several manifestations of Cowden syndrome, including:

• Large head (macrocephaly)
• Trichilemmomas are small, smooth ingrowths of the epidermis
• Keratosis is characterized by the existence of transparent nodules on the backs of the hands, soles of the feet, and palms
• Oral papillomas are wart-like growths on the tongue, gums, back of the throat, and tonsils

Read more: Macrocephaly - Definition, Causes, Symptoms, And Treatment

Diagnosis

Cowden syndrome is a complicated disorder characterized by numerous correlated symptoms and diseases. Experiencing any combination of these symptoms does not necessarily indicate that you are diagnosed with Cowden syndrome. Cowden syndrome is extremely hard to diagnose, so if your doctor suspects Cowden syndrome, it is advisable to see some specialists for further examinations and evaluation. Oncologists and genetic counselors are recommended to be consulted. The doctor's collaboration with the medical staff will result in an accurate diagnosis. As part of making a diagnosis, your symptoms will be evaluated against both major and minor criteria.

Cowden syndrome is a complex disease with several associated symptoms and conditions. You may have one or more of these symptoms, but that doesn't mean you have Cowden syndrome. The diagnosis of Cowden syndrome is difficult to make, so your doctor may recommend an examination and consultation with several doctors if you are suspected of having Cowden syndrome. Doctors who may be involved include oncologists (cancer specialists) and genetic counselors. The doctor will work with the medical team to get an accurate diagnosis. This diagnosis process involves comparing the symptoms you experience with major and minor criteria.

• 3 major criteria (except macrocephaly)
• 1 major condition or 3 minor conditions
• 4 minor conditions
• Familial history of Cowden syndrome or other malignancies

The major and minor criteria are:

Management

The doctor may recommend a treatment plan for Cowden syndrome, which focuses on an intensive strategy for early cancer screening. Women may require regular examinations, including:

• Self-examination of the breasts at 18 years old
• Clinical breast exam at 25 years old
• Annual first mammography screening at 30-35 years old
• Early endometrial cancer screening: ultrasonography or biopsy at 30-35 years old

It is recommended to start specific medical screenings at certain ages. Annual physical exams and ultrasonic thyroid exams should be initiated at the age of 18. Colonoscopy exams, which focus on the gastrointestinal tract, should begin at the age of 35. Kidney ultrasonic exams are recommended at the age of 40.

Additional primary treatment modalities for Cowden syndrome involve surgical interventions and dermatological therapies. If a tumor is causing pain or discomfort or is considered to have metastasized, it can be surgically removed. In the case of women, it may be advisable to consider the removal of the breast or uterus as a preventive measure before the onset of cancer. Skin issues are present in all individuals with Cowden syndrome, leading to the need for skin treatment treatments. A dermatologist specializes in diagnosing and treating skin conditions, including identifying afflicted areas of the skin, detecting and removing lumps and tumors using laser technology, and conducting routine screenings for skin cancer.

Complications

Cowden syndrome is associated with an increased risk of developing specific forms of malignancy. It is possible for you to experience early-onset cancer or to be diagnosed with multiple types of cancer at different stages of life. 

Consult your doctor regarding the timing and frequency of screenings required for initial cancer detection.

Prevention

As an inherited genetic disorder, Cowden syndrome is not preventable. Reducing symptoms and the probability of complications is under your control. Complete regular and initial examinations if you or your partner have a familial predisposition to Cowden syndrome.

When to see a doctor?

If you have genetic changes in the PTEN gene and are diagnosed with Cowden syndrome, consult your doctor immediately about the necessary treatment and therapy. The doctor will provide recommendations on treatment supervise your general wellness, and plan periodic cancer screening.

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