National Registry for Ichthyosis and Related Disorders - Full Text View

Purpose

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 researchers 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.

Condition

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

Genetics Home Reference related topics:

Darier disease harlequin ichthyosis L1 syndrome

MedlinePlus related topics:

Skin Conditions

U.S. FDA Resources

Study Type:	Observational
Study Design:	Cohort, Retrospective

Official Title:	Research Registry for Inherited Disorders of Keratinization

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

Biospecimen Retention: Samples With DNA

Biospecimen Description:

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.

Eligibility

Genders Eligible for Study:	Both
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

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00074685

Locations


United States, Washington
	University of Washington
	Seattle, Washington, United States, 98195

Sponsors and Collaborators

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Investigators


Principal Investigator:	Philip Fleckman, MD	University of Washington

More Information

The National Registry for Ichthyosis and Related Disorders This link exits the ClinicalTrials.gov site

FIRST - Foundation for Ichthyosis and Related Skin Types This link exits the ClinicalTrials.gov site

Publications of Results:

Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep; 40(9): 1556-9. Review. No abstract available.

Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9.

Zettersten E, Man MQ, Sato J, Denda M, Farrell A, Ghadially R, Williams ML, Feingold KR, Elias PM. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. J Invest Dermatol. 1998 Nov;111(5):784-90.

Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001 Aug;117(2):179-87.

Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May;70(5):1341-8. Epub 2002 Mar 22.

Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr;120(4):601-9.

Fleckman P. Management of the ichthyoses. Skin Therapy Lett. 2003 Sep;8(6):3-7. Review.

Fowler AJ, Moskowitz DG, Wong A, Cohen SP, Williams ML, Heyman MB. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):164-9.

Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, Williams ML. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92.

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. Review.

Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders. J Am Acad Dermatol. 2008 Jul;59(1):86-90. Review.

Other Publications:

Fleckman P. Management of the ichthyoses. Skin Therapy Lett. 2003 Sep;8(6):3-7. Review.

Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep; 40(9): 1556-9. Review. No abstract available.

Responsible Party:	University of Washington ( Dr. Philip Fleckman )
Study ID Numbers:	NIAMS-101
First Received:	December 18, 2003
Last Updated:	September 3, 2008
ClinicalTrials.gov Identifier:	NCT00074685
Health Authority:	United States: Federal Government

Keywords provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS):

Congenital

Epidermal nevus

Erythroderma

Darier

Hailey-Hailey

Harlequin

Ichthyosiform

Ichthyosiform erythroderma

Keratoderma

Keratosis

Pachyonychia

Sjogren-Larsson

Study placed in the following topic categories:

Hailey Hailey disease

Keratosis

Pemphigus, Benign Familial

Ichthyosis

Metabolism, Inborn Errors

Hyperkeratosis, Epidermolytic

Keratosis Follicularis

Exfoliative dermatitis

Nevus, Pigmented

Genetic Diseases, X-Linked

Infant, Newborn, Diseases

Congenital Abnormalities

Ichthyosis, Lamellar

Skin Diseases, Genetic

Metabolic Diseases

Autoimmune Diseases

Skin Diseases

Skin Diseases, Vesiculobullous

Keratosis follicularis spinulosa decalvans

Skin Abnormalities

Darier's disease

Dermatitis, Exfoliative

Ichthyosis, X-Linked

Lamellar ichthyosis

Pemphigus

Genetic Diseases, Inborn

Sjogren's Syndrome

Nevus

Metabolic disorder

Tylosis

Additional relevant MeSH terms:

Immune System Diseases

Steroid Metabolism, Inborn Errors

Ichthyosiform Erythroderma, Congenital

ClinicalTrials.gov processed this record on October 07, 2008

Sponsored by:	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information provided by:	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
ClinicalTrials.gov Identifier:	NCT00074685