Protocol Number: 01-DK-0062

Title:

Genetic Analysis of Familial Keloids

Number:

01-DK-0062

Summary:

The purpose of this study is to identify the gene or genes responsible for keloid formation. Keloids are raised scars on the skin that form after a minor injury. A tendency to develop keloids often runs in families, suggesting a possible genetic basis.

People who have had a classic (butterfly-shaped or wound-overflowing) keloid for at least one year may be eligible for this study. In addition to these probands (original participants), family members over 12 years of age who have either classic or non-classic keloids and those 18 years of age or older without keloids may participate.

Probands and family members with keloids will have a medical history focusing on skin problems-particularly keloids-and a skin examination. In some cases, with the subject's permission, photos of the keloids will be taken. All participants will have 35 milliliters (about 2 tablespoons) of blood drawn for DNA (genetic) testing and for measurement of blood proteins, including cytokines, which can affect other tissues and cause scarring. Part of the blood sample will be used for additional genetic studies unrelated to keloids. The samples will be coded for confidentiality.

Sponsoring Institute:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Proband: must have a butterfly-shaped or wound-overflowing keloid, present for at least one year

Affected family members: all family members of the proband who are greater than 12 years of age and who have either classic keloids, as described above, or non-classic keloids, such as ball shaped-keloids on the ear.

Unaffected family members: all family members who lack keloids and are greater than or equal to 18 years of age.

EXCLUSION CRITERIA:

Patients who are unwilling or unable to give informed consent or assent.

Patients found on examination to have hypertrophic scars and not keloids.

Keloid patients who have no relatives with keloids.

Patients who have developed keloids following phlebotomy in the antecubital fossa will not undergo phlebotomy as part of this study.

Special Instructions: Currently Not Provided

Keywords:

Candidate Gene

Genome Scan

TGF-Beta

CBP Gene

Recruitment Keywords:

Keloids

Familial Disposition

Conditions:

Keloid

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Keloids

Genetic studies on keloid

Histologic basis of keloid and hypertrophic scar differentiation Clinicopathologic correlation

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/19/2004