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Diagnosis

An accurate diagnosis of ichthyosis can be made using a combination of methods. Depending on the type and severity, one or more of the following may be used:

1. Clinical examination by a dermatologist: Dry skin is a common finding in many skin related diseases. A dermatologist has the expertise to diagnose ichthyosis by looking at the extent of the dryness, type of scale and associated symptoms and signs (for example, redness) to determine if changes are related to ichthyosis or other skin disorders. Further work-up for a diagnosis may be required.

2. Genetic testing: Clinicians may try to establish the exact type of ichthyosis and patterns of inheritance using genetic testing. This involves collecting a small amount of blood and sending it to a laboratory for analysis. Genetic testing helps to identify the correct subtype of ichthyosis and counsel families on the risk of having other children with the same skin disease.

3. Laboratory analysis or a skin biopsy: Some types of ichthyosis may require a skin biopsy. To take a biopsy of your skin, a dermatologist takes a small patch of affected skin (lesion) and analyzes this under a microscope. Further laboratory techniques such as histopathology or electron microscopy can be used for more information about the condition.

 Sources:
https://www.ncbi.nlm.nih.gov/pubmed/12553849
https://www.ncbi.nlm.nih.gov/gtr/conditions/C0079584/
https://emedicine.medscape.com/article/1198130-workup
https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/diagnosis-treatment/drc-20373759

 

Treatment

Unfortunately, ichthyosis does not have a cure yet. Treatments do exist that can help relieve the symptoms and provide comfort to those affected. Applying creams, lotions and/or ointments daily (especially those containing lanolin, alpha hydroxy acids, urea, ceramides, cholesterol or propylene glycol) can help add moisture to the scaly areas. It is most advantageous to apply it soon after a shower or bath when the skin is still damp. Taking a bath in saltwater, rubbing the skin with pumice or removing dead skin with a product containing salicylic/glycolic/lactic acid may also help. The use of a portable humidifier to add moisture to the home could alleviate symptoms as well. Patients prone to overheating may benefit from avoiding heat and using cooling vests. If the symptoms are severe, medications such as acitretin or isotretinoin may be prescribed to help with dryness and scaling.

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