fbpx

Cowden Syndrome

Skin Conditions

Cowden syndrome is a very rare genetic disease classically manifesting as the appearance of multiple hamartomas a benign (but still problematic) kind of tumor  both on the skin and within internal organs.

Cowden Syndrome
Familial Adenomatous Polyposis

The signs and symptoms of cowden syndrome vary greatly between patients; the most life-threatening of which is an increased risk for certain kinds of cancer, especially breast, thyroid, and squamous cell carcinoma (a form of skin cancer).

Often some of the first manifestations of cowden syndrome appear on the skin and mucus membranes (such as the skin of the mouth and genitals) in the form of trichilemmomas: a specific kind of hamartoma that arises from cells that form a sheath around hair follicles in the skin.

Their appearance is similar to acne and is shown below. Further confusing the diagnosis is the fact that these typically begin to arise during adolescence – the same age at which acne begins to appear. Additional cutaneous symptoms of cowden syndrome include nevi (moles), café-au-lait spots, lipomas (benign fatty growths), and an increased lifetime risk for squamous cell carcinoma that magnifies with age.

Cowden syndrome effects more than the skin, however, and patients with this disease may experience a whole host of symptoms across many organ systems. Troublesome hamartomas may appear in the thyroid gland, uterus, breast, and even in the brain where compression of the central nervous system may lead to intellectual disability and may even necessitate surgery. However, by far the most common location for these growth to appear in the gastrointestinal tract, with over 95% of patients having polyps on colonoscopy – premalignant lesions that individually do not usually cause any problems, but when they appear in high numbers such as in Cowden syndrome the likelihood of one progressing to colon cancer is high, especially with age.

Cowden syndrome is in fact associated with another genetic disease of the gastrointestinal tract – familial adenomatous polyposis, also known as FAP. Shown below is a typical image of a polyp seen on colonoscopy. Diagnosis of cowden syndrome is difficult given its rarity and wide variety of symptoms. Unfortunately there is no definitive cure. This disease is chronic, lifelong, and progressive – the manifestations (and risk for developing cancer) increase as the patient ages. Management of this disease is through aggressive screening measures to catch cancers and potentially troubling growths before they become life-threatening.

Given the slow pace of this disease, however, this is easily achieved with regular appointments with a physician. Often the most troubling aspect of the disease is its cutaneous manifestations. Fortunately, there are many solutions to the various skin lesions that can appear. Trichilemmomas may be removed by freezing, curettage (a surgical for of scraping), excision, or burning. Laser technology allows dermatologists to lighten excessive pigmented spots. Topical creams and steroids can be used to calm down inflamed or thickened areas of the skin. If you or your child is experiencing symptoms of cowden disease, please schedule an appointment with your dermatologist for treatment and evaluation.

Related Posts

Schedule AppointmentChoose a visit type to schedule an appointment with Mimi Vutran

Please choose the type of appointment:

 

RSVP for Cool Night OutFill in your info to RSVP for Cool Night Out


Request More Info About LatisseFill in your info to find out more about Latisse


Schedule AppointmentFill in your info to schedule a free CoolSculpting assesment

Please Choose one:

Request a Hair Transplant Flash Sale ConsultationFill in your info and we will contact you to schedule your consultation.


Consultation Request for October SpecialsFill in your info and our experienced staff will call you to set up a consultation.


RSVP for Day of Beauty, Sept 12 - Sept 17, 2022Fill in your info and our experienced staff will contact you shortly.

Appointment Request for Our La Quinta Lasers SpecialsFill in your info and our experienced staff will call you to set up an appointment.


RSVP for Day of Beauty, Sept 12 - Sept 17, 2022Fill in your info and our experienced staff will contact you shortly.

 

Request to See Day of Beauty PricingFill in your info and you will be redirected to our pricing table.

Request a Patient Portal LinkFill in your info and tap send. We will send you a link to the patient portal via email and text message.


Consultation RequestFill in your info and our experienced staff will call you to set up a consultation.


Sign UpTo receive our up to date information and deals


[gravityform id="8" name="Contact Form" description="false"]

Appointment RequestFill in your info and our experienced staff will call you to set up an appointment.


Career Center Contact FormFill in your info and our team will contact you.


 

Privacy Preferences
When you visit our website, it may store information through your browser from specific services, usually in form of cookies. Here you can change your privacy preferences. Please note that blocking some types of cookies may impact your experience on our website and the services we offer.