The ichthyoses are a family of genetic skin diseases characterized by dry, thickened,
scaling skin. Dermatologists estimate that there are over twenty varieties of ichthyosis,
with a wide range of severity and associated symptoms. This registry is designed to identify
people in the United States with the ichthyoses and other related disorders and to collect
information about their skin ailment and how it has affected them. The database is available
for review by approved research applicants. The registry is confidential and provides
investigators a way to share information about studies and trials with potential
participants while maintaining participants' privacy.
Although the Registry is closed to new enrollment, it is still maintained in order to
provide information related to understanding the diagnosis, pathophysiology, and treatment
of ichthyoses. Support for studies continues and inquiries from investigators are welcomed.
The purpose of this registry is to support studies aimed at determining the cause of the
ichthyoses and treating them more effectively. The Registry offers blinded information about
well-characterized groups of individuals with specific diagnoses for study by skin
biologists, pharmacologists, and others. The Registry also provides information about
research projects to those that have enrolled in the Registry and expressed an interest in
participating in studies.
Participants enrolled in the Registry by contacting the registry officials. All participants
participated in a phone interview with the study research nurse. Participants were asked
about diagnostic testing, treatments, birth history, medical history, degree and type of
involvement, current physical condition, and other family members with skin disorders. A
quality of life index was embedded in the interview. Participants also indicated whether
they would like to be contacted about participating in clinical research. This information
was complemented by an enrollment form from the enrollee's caregiver.
Diagnosis was confirmed by specific criteria based on clinical involvement, review of
histology, and where appropriate, serum cholesterol sulfate determination or DNA analysis.
Note: Accrual into this study has been discontinued as of 03/31/04.
- Diagnosis of one of the ichthyoses, erythrokeratodermas, Darier disease,
Hailey-Hailey disease, palmar-plantar keratodermas, pachyonychia congenita, extensive
epidermal nevi, or related disorder
- Ichthyosis Vulgaris