Study of Scaling Disorders and Other Inherited Skin Diseases

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.

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Key information

Conditions

Genetic Skin Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Darier Disease Genetic Diseases, Inborn Ichthyosiform Erythroderma, Congenital Ichthyosis Ichthyosis, Lamellar Infant, Newborn, Diseases Keratosis Keratosis Follicularis Lamellar Ichthyosis Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

National Cancer Institute (NCI)

Bethesda, Maryland, 20892, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

No steroid sulfatase deficiency.

Sponsors and collaborators

Lead sponsor

National Cancer Institute (NCI)

Nih

Registry information

Official study title

Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses

Important dates

Study start: 1992
Study completion: 2001
First posted: Dec 10, 2002
Registry last updated: Mar 5, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed