National Registry for Ichthyosis and Related Disorders

NCT00074685 | Completed

• 1 other identifier: NIAMS-101
• Study Type: observational
• Target: 610
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Keywords

Congenital; Epidermal nevus; Erythroderma; Darier; Hailey-Hailey; Harlequin; Ichthyosiform; Ichthyosiform erythroderma; Keratoderma; Keratosis; Pachyonychia; Sjogren-Larsson

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

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

You may not qualify if:

• Ichthyosis Vulgaris

Sponsors & Collaborators

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): lead

Study Sites (1)

University of Washington

Seattle, Washington, 98195, United States

Location

Related Publications (15)

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

  PMID: 14610614 BACKGROUND

• 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.

  PMID: 9324008 BACKGROUND

• Fleckman P: The ichthyosis registry - a resource ready for use. J Invest Dermatol 123(1):x, 2004

  BACKGROUND

• 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.

  PMID: 9843209 RESULT

• 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.

  PMID: 9804339 RESULT

• 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.

  PMID: 11511292 RESULT

• 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.

  PMID: 11912510 RESULT

• 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.

  PMID: 12648223 RESULT

• 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.

  PMID: 14734878 RESULT

• 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.

  PMID: 15238912 RESULT

• 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.

  PMID: 16250204 RESULT

• 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.

  RESULT

• 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.

  PMID: 18571597 RESULT

• 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.

  PMID: 18948357 RESULT

• 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.

  PMID: 19241467 RESULT

Related Links

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

Biospecimen

Retention: SAMPLES WITH DNA

Histology, DNA from participating enrollees

MeSH Terms

Conditions

Darier Disease; Pemphigus, Benign Familial; Hyperkeratosis, Epidermolytic; Ichthyosis; Ichthyosis, Lamellar; Ichthyosis, X-Linked; Epidermal Nevus; Dermatitis, Exfoliative; Ichthyosiform Erythroderma, Congenital; Keratosis; Nails, Malformed

Condition Hierarchy (Ancestors)

Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Vesiculobullous; Skin Abnormalities; Congenital Abnormalities; Infant, Newborn, Diseases; Genetic Diseases, X-Linked; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Dermatitis; Skin Diseases, Eczematous; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Philip Fleckman, MD

  University of Washington

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 18, 2003
• First Posted: December 19, 2003
• Study Start: September 1, 1994
• Primary Completion: January 1, 2004
• Study Completion: January 1, 2004
• Last Updated: September 28, 2022

Record last verified: 2009-04

Locations

US (1)