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INTRODUCTION

COWDENS SYNDROME

Tatum Viezbicke

Period 6

FEATURES

When mutated, the tumor supressor gene on chromosome 10 can cause Cowden Syndrome. This chromosome is responsible for providing instructions to make proteins.

GENE: PTEN

WHERE IS THIS DISEASE FOUND?

MODE OF INHERITANCE

Cowden Syndrome, aswell as Cowden-like Syndrome is an autosomal dominant trait. It can also be contracted through an affected parent.

WHAT TYPE OF TRAIT IS COWDEN SYNDROME?

IS IT SEX LINKED?

Cowden Syndrome is NOT sex-linked due to the fact it is able to be passed down through reproduction, from an affected parent. Each child (either male or female) both have a 50/50 chance on contracting the autosomal dominant trait.

With Cowden Syndrome, one out of two hundred thousand people are affected.

This means the syndrome is not common.

In the case of a mother carrying the affecting trait, either of her potential children, either male or female, have the same odds of contracting the deffected chromosome.

Since everyone has a PTEN chromosome, there is no group of people who is more likely to suffer from Cowden.

CHANCES OF CONTRACTION

WHEN DOES COWDEN SYNDROME START SHOWING SYMPTOMS?

Cowden Syndrome starts showing symptoms and devloping, usually at a younger age; 30-40s.

WHAT TREATMENT OPTIONS ARE AVAILABLE FOR PEOPLE WITH COWDEN SYNDROME?

Currently, there is no cure or specific "treatment" to cure this disorder. People suffering from Cowden Syndrome recieve a lifetime survelliance monitor from their doctor, attempting to catch any cancerous tumors early on.

TIME OF ONSET

HOW DO DOCTORS DIAGNOSE AND IDENTIFY A PATIENT WITH COWDEN SYNDROME?

A doctor may examine many symptoms that can correlate to having Cowdens Syndrome. One of the biggest giveaways that you have this disease is in your genetic build up.

PROBABLITIES OF INHERITANCE

Aa: Cowden Syndrome positive

aa: Cowden Syndrome negative

MAIN SYMPTOMS

  • multiple tumor-like growths on no particular part of the body
  • increased risk of developing types of cancers

ADITTIONAL SYMPTOMS

SYMPTOMS

  • growth in the head (larger than average head
  • hair folicle tumors (Trichilemmomas)
  • disabiblity, delayed development, or any form of autisum disorder diagnosis

WHAT DOCTORS LOOK FOR IN DIAGNOSIS

  • multiple tumor growths
  • any sort of breast, thyroid, or endomaterial cancers
  • papillomatosis in the mouth
  • a biopsied trichilemmoma
  • a genetic test showing a PTEN gene mutation
  • a family history of PTEN gene mutation

IMAGES

Cowden syndrome: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/cowden-syndrome/#:~:text=Cowden%20syndrome%20and%20Cowden%2Dlike%20syndrome%20are%20inherited%20in%20an,mutation%20from%20one%20affected%20parent%20.

Cowden syndrome - About the Disease

https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome

Cowden syndrome

https://uihc.org/health-topics/cowden-syndrome#:~:text=Cowden%20syndrome%20can%20be%20inherited,gene%20mutation%20and%20developing%20CS.

What Is Cowden Syndrome?

Mutchler

https://www.verywellhealth.com/cowden-syndrome-5198728

Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer

Kalin et al.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3799979/

WORK CITED

MORAL AND ETHICAL ISSUES

Fitting into society can be an ongoing trouble for people suffering from Cowden Syndrome. Most showing symptoms arent in view for the average population to notice, but in some cases patients show Acral Keratoses. These are wart-like skin flaps located mainly on the hands and feet. Another possible showing symptom is Facial trichilemmomas and oral mucosal papillomas. This shows on the facial area and is commonly catergorized as a STD. These factors could lead others to keep their distance, treating the patient differently.

Cowden syndrome commonly affects the breast and uterus of a woman who has it. Bearing a child wouldnt be a huge risk but you would be putting said child at risk of contracting increased risk of cancers and the same issues a person with Cowden Syndrome has if they were to recieve the mutated PTEN gene. Women with CS can contract endometrial cancer, but that is usually after the start of menopause, when a woman is past the time to concieve.

There are no CS speficic organizations of specialty, currently. Cowden Syndrome awareness often is included in breast cancer awareness.

INTRODUCTION

WHAT IS COWDENS SYNDROME?

Cowden Syndrome is the genetic disorder characterized by multiple non cancerous, tumor-like growths called hamartomas + an increased risk of devlopoing cancers

FACTS

  • Almost everyone with Cowden Syndrome develops hamartomas

--> hamartomas: a growth made up of an abnormal mixture of cells

  • associated with increased risk of developing several parts of cancer

-->partically cancers of the breast

  • some dont meet the strict criteria for a clinical diagnosis of Cowdens Syndrome

--> they usually have the symptoms and features

  • The symptoms of Cowdens Syndrome often overlap with another disorder by the name of BannayanRIley-Ruvalcaba Syndrome
  • both Cowden Syndrome and Cowden-like syndrome are caused by mutations in the same gene

FACTS

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