Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...
Trial record 2 of 6 for:    DARIER-WHITE DISEASE

Study of Scaling Disorders and Other Inherited Skin Diseases

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: November 3, 1999
Last updated: March 4, 2008
Last verified: April 2000

The purpose of this study is to identify the genes responsible for certain scaling disorders and other inherited skin diseases and to learn about the medical problems they cause. In some cases, these may include problems affecting organs other than the skin, such as the eyes, teeth and bones.

Patients with inherited skin disorders, including Darier's disease (keratosis follicularis), lamellar ichthyosis, epidermolysis bullosa, cystic acne, and others, and their relatives may be eligible for this study. Patients will have a medical history, physical examination with particular emphasis on the skin, and routine blood tests. Additional procedures for patients and unaffected relatives may include:

  1. Blood sample collection
  2. Dental exam with X-ray of the jaw
  3. Eye examination
  4. X-rays of the skull, ribs, chest, hands, feet, spine, arms, or legs
  5. Bone density scan
  6. Photographs of the skin
  7. Skin biopsies (removal of a small tissue sample under local anesthetic)
  8. Buccal sample (gentle brushing inside the cheek to collect a cell sample) for gene studies

Patients who request the results of their gene testing will be provided this information.

Genetic Skin Disease
Keratosis Follicularis
Lamellar Ichthyosis

Study Type: Observational
Official Title: Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Study Start Date: February 1992
Estimated Study Completion Date: April 2001
Detailed Description:
We propose to investigate the genetics of the scaling disorders and other genodermatoses which are believed to behave in a Mendelian manner. Families for study will be ascertained through articles in the Ichthyosis Focus, (the newsletter of the Foundation for Ichthyosis and Related Skin Types), physician referrals, and patient self-referrals. Efforts will be made to further characterize the clinical findings in both affected persons and unaffected gene carriers. Using candidate genes, especially those known to be involved in structural abnormalities of skin, we will attempt to map and isolate major genes contributing to expression of the disease phenotype. Failing this direct approach, a random search of the genome (so-called, "reverse genetics") will be utilized. In addition, normal and diseased skin will be used in cell culture and animal experiments (under a separate protocol) to test new therapeutic modalities.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
No steroid sulfatase deficiency.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001292

United States, Maryland
National Cancer Institute (NCI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
  More Information

Publications: Identifier: NCT00001292     History of Changes
Other Study ID Numbers: 920106
Study First Received: November 3, 1999
Last Updated: March 4, 2008

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Markers
Family Studies
Gene Mapping
Linkage Analysis
Scaling Disorders

Additional relevant MeSH terms:
Skin Diseases
Skin Diseases, Genetic
Darier Disease
Infant, Newborn, Diseases
Genetic Diseases, Inborn
Ichthyosis, Lamellar
Skin Abnormalities
Congenital Abnormalities
Ichthyosiform Erythroderma, Congenital processed this record on April 28, 2017