Because of the multiplicity of genetic disorders included under the umbrella term ichthyosis and its related skin disorders, making the correct diagnosis can be a challenge, even for experts.  General practitioners and even dermatologists may have little to no experience with these disorders.  FIRST can help patients find physicians who are interested and knowledgeable in these disorders.  It also offers two web-based training modules for physicians that can assist the general provider in the initial approach to the diagnosis of these disorders. [11]  The diagnosis of ichthyosis relies on features of the patient’s history (e.g., appearance at birth, family history) and physical findings (e.g., quality of the scale, pattern of involvement, presence of blisters or the presence of signs of involvement of other organ systems).  A skin biopsy may be needed for routine histopathology or for other studies such as fibroblast cultures or electron microscopy.  Occasionally blood tests may be needed.  Once the diagnosis is narrowed to a specific form of ichthyosis, confirmation by genetic testing may be possible.  Genetic testing offers several benefits, including certainty of diagnosis and early detection of future pregnancies (prenatal diagnosis). [12]

[11] “Types of Ichthyosis & Making the Correct Diagnosis” and “Management of Ichthyosis in the Neonate”.  

[12] Genetic testing and counseling are discussed in more detail in another FIRST publication, “Ichthyosis: The Genetics of Its Inheritence”.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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