Cowden syndrome

What is Cowden syndrome?

Cowden syndrome is an irregular, autosomal dominant, inherited disease in which noncancerous growths also called hamartomas on different parts of the body, involving the thyroid, breast, brain, uterus, and mucocutaneous tissues with an increased risk of malignancies. It is also called multiple hamartoma syndrome.

Other conditions that are related to the PTEN hamartoma tumor syndrome are:

• Bannayan-Riley-Ruvalcaba syndrome (BRR- diagnosed in children)
• Proteus syndrome
• Proteus-like syndrome

It is mostly misdiagnosed due to variability in disease symptoms and rare occurrences, but 99% of patients show mucocutaneous symptoms at the age of 20–29.

However it is counted as a dermatologic condition, Cowden’s syndrome is a multi-system condition that also shows neurodevelopmental disorders such as macrocephaly.

It is also important for early and regular screening for the proper treatment of the disorder to prevent malignancies.

Epidemiology

Some analyses have shown a female predominance in Cowden syndrome, and most people documented in the literature are of the white race. Some calculations show the incidence to be approximately 1 in 200,000 people.

Symptoms of Cowden syndrome

Patients with CS may have:

Skin tags
Flesh-colored growths or papules near the nose, eyes, and mouth
Wart-like papules on the back of the hands and feet

Further signs and symptoms of CS contain:

Enlarged head (macrocephaly)
Autism spectrum condition
Abnormalities of the blood vessels
Benign conditions of the breast, thyroid, and endometrium
Lhermitte-Duclos (infrequent, benign brain tumor)

Causes of CS

Cowden syndrome is a genetic condition, indicating that its generated by a gene mutation. Most frequently, the mutation happens in the PTEN (phosphatase and tensin homolog) gene that regulates cell growth. When mutated, PTEN is incapable to stop tumor growth, which raises risks for benign and cancerous tumors.

Cowden syndrome is an autosomal dominantly inherited disease, indicating the inheritance of a single gene mutation generates the disease. There is a 50 percent probability that per kid of a person with CS will inherit the disease, according to the Genetic and Rare Diseases Information Center.

In irregular instances, CS may result from mutations in further genes, involving:

• KLLN
• SDHB
• SDHC
• SDHD
• PIK3CA
• AKT1

Some patients may have CS and not know which gene, if any, caused it. Few may form CS because of a new mutation that was not inherited from a parent, but that can be passed down to their kids.

How is Cowden syndrome diagnosed?

Physicians analyze Cowden syndrome using a variety of measures that were originally developed by the International Cowden Syndrome Consortium and have been just revised over time. The different characteristics are grouped into three types: the pathognomonic measures, the major criteria, and the minor criteria.

Pathognomonic criteria are the most probable characteristics to be associated with a disease. The major and minor criteria consist of related characteristics that are not as precise to CS. The varieties assist to specify when a person has CS instead of another disease that may have parallel parts. Your doctor or provider, or genetic specialist, can look at the characteristics you have and compare them to the diagnostic measures when deciding if CS is a likely chance.

A person does not require to have all the elements in every variety to be analyzed with CS, nor does a person necessarily have CS when they have only one feature from any or all of the varieties. When making this diagnosis, it is essential to look at all of the characteristics and personal experiences over time.

• CS categories
• Pathognomonic criteria
• Mucocutaneous lesions
• Facial trichilemmomas
• Acral keratoses
• Papillomatous lesions

Major criteria

• Breast cancer
• Thyroid cancer
• Macrocephaly
• Lhermitte-Duclos disease
• Uterine (endometrial) cancer

Minor criteria

• Structural thyroid diseases (like goiter or adenomas)
• Intellectual disability/developmental delay
• Gastrointestinal hamartomas or benign tumors
• Fibrocystic breast condition
• Lipomas
• Fibromas

Treatment of Cowden syndrome

A person with Cowden condition require to undergo annual medical and physical tests, laboratory examinations, and radiographic examinations to regularly inspect for internal malignancies.

Genetic counseling of relatives is very essential, particularly for women who are at the most risk for malignant complications.

Treatment of the cutaneous features contains:

5-fluorouracil cream
Oral retinoids, generally acitretin, may temporarily maintain some of the cutaneous lesions. Lesions frequently reappear when therapy is stopped.
motor inhibitors are under examination
Surgical care of facial papules using laser resurfacing, chemical peels, surgery, and/or shave excisions.

Prognosis

The prognosis is fine, and if cancers are identified early on in the process, then a person may live close to normal life spans.

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