Ichthyosis Vulgaris

Ichthyosis Vulgaris

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis Vulgaris is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • ichthyosis simplex

Disorder Subdivisions

  • None

General Discussion

In ichthyosis vulgaris, the skin cells are produced at a normal rate, but they do not shed normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result is a build-up of scale. Fine scales usually develop on the back and over muscles near the joints, such as an elbow or knee (extensor muscles). Ichthyosis is usually most common and severe over the lower legs.

Symptoms

Ichthyosis vulgaris is an inherited skin disorder, which begins during the first year of life, although it is usually not present at birth. Symptoms in different patients vary in severity, from mild to severe. The scale is usually fine and white. Only a portion of the body may be involved, but scaling is most common and most severe on the lower legs. Scaling on the torso is less severe and the face is usually unaffected. If the face is affected, the scaling is usually limited to the cheeks and forehead. The sides of the neck and the flexural areas are usually spared. Often, the skin on the palms of the hands and soles of the feet is thickened and may have exaggerated lines.



A skin allergy or eczema (atopic dermatitis) may accompany symptoms in approximately half of patients with this disorder. This disorder tends to improve with age. Symptoms can also improve in warm humid climates or during the summer months.

Causes

Ichthyosis vulgaris is an inherited disorder transmitted through an autosomal dominant inheritance. The specific genetic defect that causes ichthyosis vulgaris is not yet identified. Human traits, including classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or the father) will be expressed, dominating the other normal gene and resulting in the appearance of the disease. In the case of ichthyosis vulgaris, the gene for the disease overrides the gene for normal skin and the individual shows the disease. The risk of transmitting the disorder from an affected parent to offspring is 50 percent for each pregnancy, regardless of the sex of the child.

Affected Populations

Ichthyosis vulgaris is a fairly common disorder that affects approximately one in 250 persons in the United States. Males and females are affected in equal numbers.

Standard Therapies

Ichthyosis vulgaris is treated topically with moisturizers containing urea or glycerol. Lotions containing alpha-hydroxy acids may help. However, some individuals with ichthyosis vulgaris also may experience atopic dermatitis (red, itchy patches of skin) and the alpha-hydroxy acids may irritate their skin.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



For additional information on current research related to ichthyosis vulgaris, contact the Foundation for Ichthyosis & Related Skin Types (FIRST) listed in the Resources section of this report.

References

JOURNAL ARTICLES

McGrath JA.Filaggrin and the great epidermal barrier grief. Australas J Dermatol. 2008 May;49(2):67-73.



Rodríguez E, Illig T, Weidinger S.

Filaggrin loss-of-function mutations and association with allergic diseases Pharmacogenomics. 2008 Apr;9(4):399-413.



Liu P, Yang Q, Wang X, Feng A, Yang T, Yang R, Wang P, Yuang M, Liu M, Liu JY, Wang QK. Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3-q24.2. J Invest Dermatol. 2007 Dec 13.



Elias, PM, Williams, ML. Enlightened Therapy of the Disorders of Cornification. Clinics in Dermatology. 2003; 21: 269- 273.



DiGiovanna, JJ, Robinson-Bostom, L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003; 4: 81-95.

Resources

Foundation for Ichthyosis & Related Skin Types

2616 N Broad Street

Colmar, PA 18915

Tel: (215)997-9400

Fax: (215)997-9403

Tel: (800)545-3286

Email: info@firstskinfoundation.org

Internet: http://www.firstskinfoundation.org



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



National Registry for Ichthyosis and Related Disorders

University of Washington

Dermatology Dept. Box 356524

1959 N.E. Pacific Street

Seattle, WA 98195-6524

Tel: (800)595-1265

Email: info@skinregistry.org

Internet: http://www.skinregistry.org/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



European Network for Ichthyosis (ENI)

In den Dellen 21

D-51515 Kürten

Germany

Tel: +49 2207849869

Email: e-n-i@gmx.net

Internet: http://www.ichthyosis.eu



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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