Founded in 1981Educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy, and research funding for better treatments and eventual cures.
Common and Distinctive Types of Ichthyosis
The types of ichthyosis descriptions listed here and throughout FIRST's website are not intended to be comprehensive nor to take the place of consultations with your own physician. The most common or distinctive types of ichthyosis and related disorders of keratinization are listed, and their most characteristic features are outlined. For those who want more complete (and generally more technical) information, links are provided to the Online Mendelian Inheritance in Man (OMIM), a database that lists all known inherited disorders.
Several general comments about the format and content of this page are important to note:
Ichthyosis currently is classified on the basis of clinical appearance and inheritance pattern. This system, which is used on the following pages and relies on few sophisticated tools and tests, has worked remarkably well for diagnosing and classifying most patients with ichthyosis.
This may change in the future for several reasons. First, many individuals with ichthyosis are the first or only members of their family with ichthyosis; in those cases, inheritance pattern cannot be directly confirmed. Second, clinical appearance is not always a reliable indicator of the cause of the ichthyosis. For example, no two people with the same disease look quite the same.
Disease severity can vary significantly among individuals who have been given the same diagnosis and who have mutations in the same gene.
By contrast, some people whose ichthyosis looks very similar actually have mutations in different genes and, thus, the cause of their ichthyosis is different. Lastly, some individuals have clinical features that do not permit easy assignment to existing categories or diagnoses. In the future, an individual's personal genetic makeup (their genetic diagnosis) will become increasingly important in the diagnosis, classification and prognostication for that individual.
Different names have been used over the years to describe individuals who we now believe had the same disease. Names commonly used in Europe are not always the same as the names used in the United States. We've chosen names that are commonly used in the United States. A list of other names for each diagnosis is included.