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
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.
No steroid sulfatase deficiency.