Study of Scaling Disorders and Other Inherited Skin Diseases
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.
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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