Ichthyosis is a general term for a family of 30+ skin disorders that cause scaly, dry skin. It can be thickened or thin, red or shiny, and affect just the skin or can cause problems with hearing, eyesight or mobility. Just under 20,000 children a year are born with ichthyosis in the United States. Some types are so rare that only 5 children are born with it in any year. Ichthyosis affects all genders and races and never “goes away.”
There is no cure for ichthyosis, although research has made great strides in identifying all of the genes in the last 10 years and a few stem cell and missing enzyme replacement studies are underway. Research is severely limited by funding — ichthyosis isn’t as “sexy” as some other research. There’s also a lack of knowledge among the general public and even within the medical community. Most research has gone into finding effective ways to manage the disorder.
Ichthyosis is caused by genes. Some types are recessive, which means both parents are carriers and have probably been carrying the gene for generations before two carriers happened to pass on both sperm and egg with the mutation. These children are born with Harlequin, Lamellar and CIE types, as well as some rarer varieties. Some types are dominant, in which most are passed directly from an affected parent to 50% of their children. The most common type, Vulgaris (Latin for “common”) is dominant. Other rare dominant type are most often due to a spontaneous mutation in that particular sperm or egg, resulting in an affected child from unaffected parents. Siblings are almost never affected, although the affected child will pass the disorder on to roughly half of their children. Epidermolytic ichthyosis, also called EHK, KPI and bCIE, is one of these dominant types.
We will be blogging at length about all of these issues. If you are interested in particular topics or need clarification about anything, please contact us.
–Rachel and Jennifer, September 2, 2012