Ichthyosis, CHILD Syndrome

Ichthyosis, CHILD Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ichthyosis, CHILD Syndrome 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

  • Congenital Hemidysplasia with Ichthyosis Erythroderma and Limb Defects
  • DOC 16, Unilateral Hemidysplasia Type
  • Disorders of Cornification 16
  • Unilateral Hemidysplasia Type
  • Unilateral Ichthyosiform Erythroderma with Ipsilateral Malformations, Limb
  • CHILD Nevus
  • CHILD Naevus

Disorder Subdivisions

  • None

General Discussion

CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.



If defects of other body organs are present, they are usually on the same side of the body as the skin and limb abnormalities.

Symptoms

CHILD syndrome is usually present at birth. It may first become apparent at some point during the first month of life.



The skin is usually dry, itchy, red and scaly (ichthyosiform erythroderma) on one side of the body, although minor skin involvement in the shape of lines or segments may occur on the opposite side of the body. Bands of normal skin may be found on the affected side as well. Patients with CHILD syndrome may be bald on one side of the head and have clawlike nails.



Limb defects usually occur on the same side of the body as the major skin symptoms. These defects may range from underdevelopment of fingers and toes to complete absence of a limb. Some of the types of skeletal defects that might occur include abnormal ribs, anomalies of the shoulder blades (scapula), webbing of the skin between joints, and absence of muscles of the breast (pectoral).



Heart defects sometimes associated with this syndrome include defects in the walls between auricles and/or ventricles, as well as complex heart disease in which less than adequate amounts of oxygen get to the organ (cyanosis).



Abnormalities of the central nervous system, blood vessels, kidneys, thyroid, lungs and adrenal glands, and of the reproductive and urinary system, may also occur. Most of these abnormalities result from underdevelopment of the affected side of the body.

Causes

CHILD syndrome is a hereditary disorder transmitted as an X-linked dominant trait. The faulty gene is on the long arm of the X chromosome (Xq28). The protein/enzyme product coded by the gene has been identified as NSDHL and governs an essential step in the biosynthesis of cholesterol.



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 Xq28" refers to band 28 on the long arm of the X-chromosome. 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 which 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.



X-linked dominant disorders are caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive.

Affected Populations

Only about 30 cases have been reported in the United States and of these 29 involved infant girls and only 1 involved a boy. Of these 30 cases, only 6 cases involved organs or systems on the left side of the body.

Standard Therapies

Diagnosis

A thorough physical exam may be sufficient for the diagnosis.



Treatment

Skin (dermatologic) symptoms of CHILD syndrome are treated by applying 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 the skin symptoms of this disorder.



Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate can be effective against dermatologic symptoms of CHILD syndrome, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin (accutane), when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis.



Other treatment is symptomatic and supportive. Genetic counseling may be helpful to families of patients with CHILD syndrome.

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

TEXTBOOKS

Sybert VP. Ichthyosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:120-21.



Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:831-32.



Champion RH, Burton JL, Ebling FJG, eds. Textbook of Dermatology. 5th ed. Blackwell Scientific Publications. London, UK; 1992:1329-65.



REVIEW ARTICLE

Happle R, Mittag H, Kuster W. The CHILD nevus: a distinct skin disorder. Drermatology. 1995;191:210-16.



JOURNAL ATICLES

Caldas H, Herman GE. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Mol Genet. 2003 Sep 23



Hummel M, Cunningham D, Mullett CJ, et al. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet. 2003;122A:246-51.



Konig A, Happle R, Fink-Puches R, et al. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvem,ent. J Am Acad Dermatol. 2002;46:594-96.



Grange DK, Kratz LE, Braverman NE, et al. Child syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet. 2000;90:328-35.



FROM THE INTERNET

Foundation for Ichthyosis & related Skin Types. (FIRST). About Ichthyosis. CHILD Syndrome. nd. 2pp.

www.scalyskin.org/content.cfm?ContentID=94&ColumnID=14



Ayme S. CHILD syndrome. September 2002. 2pp.

www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=139



Fenske NA, Roshdieh B. CHILD Syndrome. emedicine. Last updated: September 15, 2003. 7pp.

www.emedicine.com/derm/topic75.htm

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 Allergy and Infectious Diseases

Office of Communications and Government Relations

6610 Rockledge Drive, MSC 6612

Bethesda, MD 20892-6612

Tel: (301)496-5717

Fax: (301)402-3573

Tel: (866)284-4107

TDD: (800)877-8339

Email: ocpostoffice@niaid.nih.gov

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



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



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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