Genetic Analysis of Keloids

Therapuetic Areas:Dermatology / Plastic Surgery
Age Range:Any
Start Date:April 2009
End Date:December 2025
Contact:Ernst Reichenberger, PhD

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Identification of Genetic Variants That Contribute to Keloid Formation in Families and Isolated Cases.

Keloids have a strong genetic component. The goal of this study is to identify genes and
regulatory elements on chromosomes that are the cause for keloids or contribute to keloid

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 in most keloid patients do not run in the family. 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

For this study we will:

- Send out study participation kits and consent by phone

- Collect a saliva sample from eligible individuals

- Obtain information regarding the keloids

- Document keloids with photos

- If keloid patients undergo keloid surgery we ask to obtain some scar tissue that would
otherwise be discarded

- Isolate DNA from the saliva sample

- Perform genetic analyses of the DNA with the most up-to-date methods available to
identify genetic variations

- Study in the laboratory why the genetic variations cause keloids

Inclusion Criteria:

- keloids;

- unaffected individuals only if part of a participating keloid family

Exclusion Criteria:

- no keloids;

- unaffected individuals only as part of a participating keloid family
We found this trial at
Farmington, Connecticut 06030
Farmington, CT
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