National Registry for Ichthyosis and Related Disorders

Research Registry for Inherited Disorders of Keratinization

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.

Study Overview

• Status: Completed
• Conditions: Ichthyosis; Ichthyosis, X-Linked; Ichthyosis, Lamellar; Darier Disease; Hailey-Hailey Disease; Hyperkeratosis, Epidermolytic; Keratoderma

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.

• Study Type: Observational
• Enrollment (Actual): 610

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Collaborators and Investigators

• Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Philip Fleckman, MD, University of Washington

Publications and helpful links

General Publications

• Fleckman P. Management of the ichthyoses. Skin Therapy Lett. 2003 Sep;8(6):3-7.
• Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
• Fleckman P: The ichthyosis registry - a resource ready for use. J Invest Dermatol 123(1):x, 2004
• 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. doi: 10.1038/3840.
• 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. doi: 10.1046/j.1523-1747.1998.00386.x.
• 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. doi: 10.1046/j.1523-1747.2001.01389.x.
• 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. doi: 10.1086/339986. 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. doi: 10.1046/j.1523-1747.2003.12080.x.
• 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. doi: 10.1097/00005176-200402000-00012.
• 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. doi: 10.1016/j.jpeds.2004.03.052.
• 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. doi: 10.1111/j.1087-0024.2005.10202.x.
• 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.
• 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. doi: 10.1016/j.jaad.2008.02.031.
• Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.
• Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.

Helpful Links

• The National Registry for Ichthyosis and Related Disorders
• FIRST - Foundation for Ichthyosis and Related Skin Types

Study record dates

Study Major Dates

• Study Start: September 1, 1994
• Primary Completion (Actual): January 1, 2004
• Study Completion (Actual): January 1, 2004

Study Registration Dates

• First Submitted: December 18, 2003
• First Submitted That Met QC Criteria: December 18, 2003
• First Posted (Estimate): December 19, 2003

Study Record Updates

• Last Update Posted (Actual): September 28, 2022
• Last Update Submitted That Met QC Criteria: September 26, 2022
• Last Verified: April 1, 2009

More Information

Terms related to this study

• Keywords: Congenital; Keratosis; Epidermal nevus; Erythroderma; Darier; Hailey-Hailey; Harlequin; Ichthyosiform; Ichthyosiform erythroderma; Keratoderma; Pachyonychia; Sjogren-Larsson
• Additional Relevant MeSH Terms: Metabolic Diseases; Skin Diseases; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Metabolism, Inborn Errors; Skin Diseases, Vesiculobullous; Skin Abnormalities; Steroid Metabolism, Inborn Errors; Keratosis; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Ichthyosis, Lamellar; Darier Disease; Pemphigus, Benign Familial; Hyperkeratosis, Epidermolytic; Ichthyosis, X-Linked
• Other Study ID Numbers: NIAMS-101