Definition

What is Cowden syndrome?

Cowden syndrome, also also known as Cowden syndrome or Multiple Hamartoma syndrome is an inherited condition characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. People with the syndrome usually have large head (macrocephaly), benign tumors of the hair follicle (trichilemmomas), and white papules with a smooth surface in the mouth (papillomatous papules), starting by the late 20s.

Cowden syndrome is considered part of the PTEN Hamartoma tumor syndrome spectrum which also includes Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome.

How common is Cowden syndrome?

Cowden syndrome (CS) is thought to be rare, although it is probably under-diagnosed. It is estimated that CS affects about 1 in every 200,000 individuals. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Cowden syndrome?

The common symptoms of Cowden syndrome are

  • Cutaneous facial papules. These papules may be flesh-colored and elongated. These papules may have a diameter of about 6 mm.
  • Hamartomas- noncancerous growths on various parts of the body
  • Oral lesions
  • Hamartomatous polyps- growths along the inner lining of the gastrointestinal tract

Other signs and symptoms of Cowden syndrome may include:

  • Benign diseases of the breast, thyroid, and endometrium. Sometimes, the tumors can be cancerous.
  • A rare, noncancerous brain tumor called Lhermitte-Duclos disease
  • An enlarged head (macrocephaly)
  • Autism spectrum disorder
  • Intellectual disability
  • Vascular (the body’s network of blood vessels) abnormalities

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Cowden syndrome?

Cowden syndrome develops as a result of the mutation of gene PTEN, which is a tumor supressor gene. This gene produces protein called phosphatase and functions by regulating cell growth. Mutation of the PTEN gene leads to a malfunction of the cell regulation, resulting in overproduction of cells causing this syndrome.

Cowden syndrome is an autosomal dominant type disorder which means that the child has to inherit only one copy of the defective gene from one parent to get this disease.

Risk factors

What increases my risk for Cowden syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Cowden syndrome diagnosed?

A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a mutation in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not found, genetic testing for the other genes known to cause Cowden syndrome can be considered.

The National Comprehensive Cancer Network consensus clinical diagnostic criteria have been divided into three categories:

  • Pathognomonic criteria (criteria that is characteristic for a particular disease): mucosal and skin lesions
  • Major criteria: breast cancer, macrocephaly, thyroid cancer and endometrial cancer
  • Minor criteria: thyroid lesions, intellectual disability,  hamartomatous intestinal polyps, fibrocystic disease of the breast, lipomas, fibromas, genital and urinary tumors or malformations, uterine fibroids

A diagnosis is given if a patient has the “pathognomonic” skin lesions, two or more major criteria, one major and 3 or more minor criteria, or 4 or more minor criteria. The diagnostic criteria for adults and children have some differences.The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome.

Finding mutations in the PTEN gene or other causal genes confirms diagnosis.

GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria.

How is Cowden syndrome treated?

Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes:

 

Cancer screening for women

  • Breast self exams beginning at age 18
  • Clinical breast exams every 6-12 months beginning at age 25**
  • Annual mammogram and breast MRI beginning at age 30-35**
  • Annual screening for endometrial cancer with ultrasound and/or random biopsy may be considered beginning at age 30-35
  • Prophylactic surgeries may be considered as a preventative option for some forms of cancer

Cancer screening for men and women

  • Annual physical examination beginning at age 18**
  • Annual thyroid ultrasound beginning at age 18**
  • Baseline colonoscopy at age 35 with follow-up every 5 years (more frequent if polyps identified)
  • Consider renal (kidney) ultrasound every 1-2 years beginning at age 40

**or individualized based on the earliest diagnosis of cancer in the family.

Pediatric (age <18 years)

  • Yearly thyroid ultrasound examination** (on identification of a PTEN pathogenic variant)
  • Yearly skin check with physical examination
  • Neurodevelopmental evaluation

If there are not any symptoms, observation alone is prudent. Cutaneous lesions should be removed only if malignancy is suspected or symptoms (e.g., pain, deformity, increased scarring) are serious. When symptomatic, topical agents (e.g., 5-fluorouracil), curettage, cryosurgery, or laser ablation may offer temporary relief.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Cowden syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.