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Study of Scaling Disorders and Other Inherited Skin Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00001292
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 5, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

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.

Condition or disease
Genetic Skin Disease Keratosis Follicularis Lamellar Ichthyosis

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.

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Study Type : Observational
Official Title: Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses
Study Start Date : February 1992
Study Completion Date : April 2001

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
No steroid sulfatase deficiency.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00001292

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United States, Maryland
National Cancer Institute (NCI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Cancer Institute (NCI)
Layout table for additonal information Identifier: NCT00001292    
Other Study ID Numbers: 920106
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 5, 2008
Last Verified: April 2000
Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Markers
Family Studies
Gene Mapping
Linkage Analysis
Scaling Disorders
Additional relevant MeSH terms:
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Ichthyosis, Lamellar
Skin Diseases, Genetic
Darier Disease
Skin Diseases
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Ichthyosiform Erythroderma, Congenital
Genetic Diseases, Inborn