Ichthyosis, Chanarin Dorfman Syndrome Important
It is possible that the main title of the report Ichthyosis, Chanarin Dorfman 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

• Chanarin Dorfman Disease
• Disorder of Cornification 12 (Neutral Lipid Storage Type)
• DOC 12 (Neutral Lipid Storage Type)
• Dorfman Chanarin Syndrome
• Ichthyosiform Erythroderma with Leukocyte Vacuolation
• Ichthyotic Neutral Lipid Storage Disease
• Neutral Lipid Storage Disease
• Triglyceride Storage Disease Impaired Long-Chain Fatty Acid Oxidation

Disorder Subdivisions

• None

General Discussion

Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).

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/