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National Registry for Ichthyosis and Related Disorders

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified April 2009 by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
Recruitment status was:  Active, not recruiting
Information provided by:
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Identifier:
First received: December 18, 2003
Last updated: April 28, 2009
Last verified: April 2009

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.

Darier Disease
Hailey-Hailey Disease
Hyperkeratosis, Epidermolytic
Ichthyosis, Lamellar
Ichthyosis, X-Linked

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Research Registry for Inherited Disorders of Keratinization

Resource links provided by NLM:

Further study details as provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS):

Biospecimen Retention:   Samples With DNA
Histology, DNA from participating enrollees

Enrollment: 610
Study Start Date: September 1994
Detailed Description:

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with one of the following diseases: Erythrokeratoderma, Extensive Epidermal Nevi, Darier disease, Hailey-Hailey disease, Ichthyosis, Palmar-Plantar Keratoderma, or Pachyonychia Congenita

Note: Accrual into this study has been discontinued as of 03/31/04.

Inclusion Criteria:

  • Diagnosis of one of the ichthyoses, erythrokeratodermas, Darier disease, Hailey-Hailey disease, palmar-plantar keratodermas, pachyonychia congenita, extensive epidermal nevi, or related disorder

Exclusion Criteria:

  • Ichthyosis Vulgaris
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00074685

United States, Washington
University of Washington
Seattle, Washington, United States, 98195
Sponsors and Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Principal Investigator: Philip Fleckman, MD University of Washington
  More Information

Additional Information:
Richard G, Ratajcaz P, Amin S, Ilyas H. Netherton Syndrome: Novel and Recurrent Mutations in SPINK5 and implications for screening and diagnosis. J Invest Dermatol 122, 2004.
Fleckman P: The ichthyosis registry - a resource ready for use. J Invest Dermatol 123(1):x, 2004

Responsible Party: Dr. Philip Fleckman, University of Washington Identifier: NCT00074685     History of Changes
Other Study ID Numbers: NIAMS-101
Study First Received: December 18, 2003
Last Updated: April 28, 2009

Keywords provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS):
Epidermal nevus
Ichthyosiform erythroderma

Additional relevant MeSH terms:
Ichthyosis, Lamellar
Ichthyosis, X-Linked
Hyperkeratosis, Epidermolytic
Darier Disease
Pemphigus, Benign Familial
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Skin Diseases
Ichthyosiform Erythroderma, Congenital
Skin Diseases, Genetic
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Skin Diseases, Vesiculobullous processed this record on April 28, 2017