Clinical Trial: Study of Scaling Disorders and Other Inherited Skin Diseases

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



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

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.