Erythrokeratodermia with Ataxia

Erythrokeratodermia with Ataxia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Erythrokeratodermia with Ataxia 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

  • Giroux Barbeau Syndrome

Disorder Subdivisions

  • None

General Discussion

Erythrokeratodermia with ataxia (EKDA) is a hereditary disorder of the skin and nervous system (neurocutaneous syndrome) characterized by groups of hard, red plaques that develop during infancy and childhood. When these skin lesions heal, the disorder seems to become dormant for several years, after which the neurological symptoms and signs emerge in the form of a typically awkward gait (ataxia) when the affected individual is around 40 years of age or older.



Many researchers active in the study of the family of diseases known as the ichthyoses consider EKDA to be a variant of an ichthyotic disorder, erythrokeratodermia variabilis (EKDV). However, there is no general consensus on this at this time.

Symptoms

Erythrokeratodermia with ataxia starts during early infancy. This disorder is characterized by groups of red, hardened scaly skin plaques (ichthyosis) that remain throughout childhood, but disappear during young adulthood. These plaques tend to develop most often on the skin of the extremities. They usually disappear during the summer. A progressive neurologic syndrome develops during adulthood, consisting of impaired muscle coordination (ataxia), imperfect articulation of speech (dysarthria), involuntary rhythmic oscillation of the eyes (nystagmus), and decreased tendon reflexes.

Causes

Erythrokeratodermia with ataxia is thought to be inherited as an autosomal dominant genetic trait.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.



All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Erythrokeratodermia with ataxia is an extremely rare disorder that is thought to affect males and females in equal numbers.

Standard Therapies

Diagnosis

The diagnosis of erythrokeratodermia with ataxia may be suspected soon after birth by the appearance of characteristic skin lesions. Neurological abnormalities associated with this disorder may not occur until adulthood.



Treatment

Treatment is aimed at reducing thickening and cracking of the skin. It may include skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder.



The treatment of erythrokeratodermia with ataxia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists, including dermatologists, neurologists and other healthcare professionals, to systematically and comprehensively plan an affected child's treatment. Genetic counseling may be helpful for affected individuals and their families.



If the symptoms of ataxia appear in adulthood, the services of orthopedic surgeons, rehabilitation specialists, and others may be required.

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) Clinical Center 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

References

REVIEW ARTICLES

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



Richard G. Connexins: a connection with the skin. Exp Dermatol. 2000;9:77-96.



JOURNAL ARTICLES

Strober BE. Erythrokeratodermia variabilis. Dermatol Online J. 2003;9:5.



Richard G, Brown N, Rouan F, et al. Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003;120:601-09.



Richard G, Brown N, Smith LE, et al. The spectrum of mutations in erythrokeratodermia[s] - novel and de novomutations in GJB3. Hum Genet. 2000;106:321-29.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Erythrokeratodermia with Ataxia. Entry Number; 133190: Last Edit Date; 3/18/2004.



Erythrokeratodermia Variabilis. FIRST: Foundation for Ichthyosis & Related Skin Types. 2004.

http://www.scalyskin.org/content.cfm?ContentID=98&ColumnID=14



The National Registry for Ichthyosis and Related Disorders. University of Washington. nd.

http://depts.washington.edu/ichreg/ichthyosis.registry/

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/



Canadian Association for Familial Ataxias - Claude St-Jean Foundation

3800 Radisson Street Office 110

Montreal

Quebec, H1M 1X6

Canada

Tel: 5143218684

Tel: 8553218684

Email: ataxie@lacaf.org

Internet: http://www.lacaf.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/



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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