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Sponsored by: |
National Cancer Institute (NCI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001292 |
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:
Patients who request the results of their gene testing will be provided this information.
Condition |
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Genetic Skin Disease Keratosis Follicularis Lamellar Ichthyosis |
Study Type: | Observational |
Official Title: | Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses |
Study Start Date: | February 1992 |
Estimated Study Completion Date: | April 2001 |
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
No steroid sulfatase deficiency.
Study ID Numbers: | 920106, 92-C-0106 |
Study First Received: | November 3, 1999 |
Last Updated: | March 4, 2008 |
ClinicalTrials.gov Identifier: | NCT00001292 |
Health Authority: | United States: Federal Government |
DNA Markers Family Studies Gene Mapping Ichthyosis |
Keratin Linkage Analysis Scaling Disorders Skin |
Keratosis Skin Diseases Keratosis follicularis spinulosa decalvans Skin Abnormalities Darier's disease Dermatitis, Exfoliative Lamellar ichthyosis Ichthyosis Keratosis Follicularis |
Exfoliative dermatitis Genetic Diseases, Inborn Infant, Newborn, Diseases Ichthyosis, Lamellar Congenital Abnormalities Skin Diseases, Genetic Ichthyosiform erythroderma, nonbullous congenital Tylosis |
Ichthyosiform Erythroderma, Congenital |