UConn Health Center Keloid Research

About

The goal of this research study is to identify genes and regulatory elements on chromosomes that are the cause for keloid scars. If we know what causes keloids in the first place we can study what makes cells in keloid scars malfunctioning.

Description

What is the purpose of this genetic research study?
Please visit: http://reichenbergerlab.uchc.edu/index.html
The goal of this research study is to identify genes and regulatory elements on chromosomes that are the cause for keloid scars. If we know what causes keloids in the first place we can study what makes cells in keloid scars malfunctioning. Better knowledge of how keloids form is necessary to develop better treatments.

What are keloids?

Keloids are scars that keep growing beyond the border of the original wound. They typically persist for several years, expand for an extensive period of time and are sometimes called benign tumors. Keloids often have a lumpy surface and are often tender, itchy or inflamed around the growing border.
Keloids can develop after surgery, injuries, ear piercing, vaccinations, acne or minor scratches. Keloids develop after injuries to the skin of most body parts but are rare on the palm of the hand or the sole of the foot. They do not occur in the mucosa of the mouth.
Some scars are bumpy and raised for several months but do not grow beyond the margin of the wound. Those are called hypertrophic scars and are not keloids. The distinction between small keloids and hypertrophic scars can sometimes be difficult.

Who can get keloids?

Keloids are most common in individuals of African ancestry but are also found in Asians and less frequently in Caucasians. Although there are no reliable numbers available, we estimate that approximately 1 % of individuals of West African origin have keloids.
Young children and older adults rarely get keloids. It appears that most new keloids develop after puberty to the age of 30 or 40 years old.

Can keloids be inherited?

Keloids in most keloid patients do not run in the family. We believe that only about 1 % of keloid cases are inherited. The way keloids are inherited is not yet clear (mode of inheritance). In the inheritable form of keloids it is possible that there is one major gene mutation that puts family members at risk for developing keloids. There may be other variations in the DNA (DNA makes up the chromosomes) that determine whether keloids become large and aggressive or stay small and without many symptoms. It is unknown whether the environment (food or the things one does) have an effect on keloids.
Those keloid patients who have no other keloid formers in their family are unlikely to pass the keloids on to their children. However, it cannot be excluded that their offspring have an increased risk to develop keloids. Most likely several minor mutations (variants) in the genome are necessary to cause those keloids.

Do we treat keloids?

No, we do not treat keloids. We perform basic research to understand the cause for keloids. Based on this knowledge we expect that better treatment can be developed in the future.

Why should I participate in such a genetic study?

While we have some knowledge on proteins that are produced at the wrong time or the wrong amount in keloid scars, we do not know what causes keloids in the first place. Some genes are suspected to be involved in keloid formation, but no mutation is known. We need the participation of a large number of keloid patients to solve this problem with the latest genetic methods that are available to us.
YOUR participation will help to reach our goal.

Will I directly benefit from this study?

You will not directly benefit from the results of this study.

Who can participate in the study?

Any individual with keloids is eligible to participate. Sometimes it may not be clear whether a scar is a keloid. In such instances we will clarify with the individual whether a scar is a keloid by discussing the scar history or by asking for a photograph.
If keloids run in the family we would also be interested in recruiting certain other affected and unaffected family members as controls.

What if I do not live close to UCHC?

We can communicate with you by email and telephone. You do not have to come to UCHC. However, if you live close by you are welcome to see us in person.
What do I need to do if I wish to participate?
You will be asked to donate a onetime saliva sample. If you have keloid surgery we would also like to obtain keloid tissue that would otherwise be discarded by the surgeon.

What are the procedures for participation?

To donate saliva:
1. You contact us by email or by phone.
2. We will establish whether you have keloids or not and answer your questions about the study.
3. We will send you a saliva collection kit, a questionnaire regarding your keloids and consent forms as well as a prepaid return envelope.
4. We will make an appointment to talk you through the consent form and the questionnaire. We will answer any question you may have.
5. You return the signed papers and the saliva sample by prepaid FedEx envelope.
6. You also send us photos of the keloids (by email or hard copies).
7. Once all materials are complete we will send you a $25 check by registered mail as thank-you for your time and inconvenience.
To donate tissue:
1. You will have gone through the recruitment procedures for the saliva collection.
2. Please let us know about any upcoming keloid surgery and tell your doctor that you participate in a keloid study.
3. We will arrange with your doctor to receive keloid tissue that he would otherwise discard. No extra tissue will be removed! We will send special tubes to the doctor who will send it back via a prepaid FedEx envelope.
4. We may ask you to give us a tube of blood at the same time you have the surgery.

Why do we need these samples?

The saliva samples will be used to isolate DNA from the cells in the saliva. DNA is the material that makes up genes and chromosomes. We will compare the DNA from individuals with keloids and individuals without keloids. Thus we hope to find the genetic differences that lead to keloid formation.
Tissue samples from keloids will be used to isolate scar cells and to study the differences to normal scars.

Confidentiality and privacy?

We do our best to protect your personal data. All samples will be given a number and kept separate from the paperwork which links the number to your personal data. We will not pass any information on to your insurance. We will not enter our research data into any of your medical records.

Can I withdraw from the study?

If you choose to withdraw from the study after your sample has been obtained, we will destroy all records in our research files connecting your identity with your samples. This way samples can only be used anonymously from this point forward.

Can I obtain results from this study?

You can choose to receive general information about results once we have made significant progress. No research results pertaining to your person will be shared with you or any member of your family. We can send information about your own sample to your physician or genetic counselor who can explain the significance of the finding. This is to avoid any confusion about genetic information.

What if I have questions?

You can contact the study team at any time and we will give you contact information for regulatory entities that oversea our research.

To participate or ask questions and to obtain more information please email, call or fax to the following address:

Ernst Reichenberger. Ph.D.
(Associate Professor)
University of Connecticut Health Center (UCHC)
Department of Reconstructive Sciences
263 Farmington Avenue
Farmington, CT 06030-3705
http://reichenbergerlab.uchc.edu/index.html

Tel: toll free 866-512-9897 or 860-679-2062
Fax: 860-679-2910
Email: [email protected]