Study of Scaling Disorders and Other Inherited Skin Diseases

Completed

Conditions studied: Genetic Skin Disease, Keratosis Follicularis, Lamellar Ichthyosis

In brief

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.

Key facts

Study ID
NCT00001292
Run by
National Cancer Institute (NCI)
Starts
1992-02-01
Expected to finish
2001-04-01
Last updated by the study team
2008-03-05

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

Where it is running

Full record on ClinicalTrials.gov

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