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Erythrokeratodermia with Ataxia

Synonyms of Erythrokeratodermia with Ataxia

  • Giroux Barbeau Syndrome

Disorder Subdivisions

  • No subdivisions found.

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.

Related Disorders

Symptoms of the following disorders may be similar to those of Erythrokeratodermia with Ataxia. Comparisons can be useful for a differential diagnosis:

"Ichthyosis" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.)

Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) is an inherited skin disorder. It is characterized by generalized, abnormally red, dry and rough skin, with large, coarse scales. Itchiness (pruritus) usually also develops. Skin on the palms of the hands and soles of the feet is abnormally thick. (For more information, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.)

X-Linked Ichthyosis is an inherited skin disorder affecting males, caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in steroid hormone metabolism. Cholesterol sulfate may accumulate in the blood and skin. (For more information, choose "X-Linked Ichthyosis," as your search term in the Rare Disease Database.)

Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic Hyperkeratosis. (Choose the appropriate name as your search term for more information on that disorder in the Rare Disease Database.)

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

Erythrokeratodermia with Ataxia Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

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/

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/03/31 00:00:00 GMT+0

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