Diagnosis of Ichthyosis

Health care providers usually diagnose ichthyosis by:

  • Asking about your family and medical history, including any skin disorders.  
  • Completing a physical exam, which includes a close examination of the skin, hair, and nails.  
  • Performing a skin biopsy to examine the tissue under a microscope. Sometimes doctors use a biopsy to help diagnose the condition or determine if the symptoms are from another disease or skin condition.

In addition, your health care provider may be able to diagnose ichthyosis with a genetic test that detects the mutated gene usually from a blood sample or a swab from the mouth. A genetic counselor or specialist can help you understand the test results.

Treatment of Ichthyosis

There is currently no cure for ichthyosis. The goals of treatment include reducing the redness of the skin, thickness of the scales, and itching. Treatments can include:

  • Hydrating the skin with creams, lotions, or ointments to help trap moisture in the skin and relieve dryness and scaling. This works best if the topical agents are applied when the skin is moist.
  • Taking long baths to soften and release scales.
  • Taking a retinoid, a type of medication that can decrease scaling.
  • Using prescription creams or ointments that may contain retinoids or other medications.

Depending on the type and severity of the disease, doctors may recommend additional treatment with “keratolytic” topical agents, which can help to loosen scales. However, these can be irritating for some people and have potential side effects if used in large amounts. Talk to your doctor before using any treatment option.

Who Treats Ichthyosis?

You may see one or more of the following specialists:

  • Dermatologists, who specialize in conditions affecting the skin, hair, and nails.
  • Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
  • Ophthalmologists, who treat disorders and diseases of the eye.
  • Genetic counselors, who counsel and educate people on their genetic health.
  • Audiologist, who diagnoses and treats hearing and balance problems.
  • Nurse educators, who specialize in helping people to understand their overall condition and to set up their treatment plans.
  • Pediatricians, who diagnose and treat children.
  • Primary care physicians, who diagnose and treat adults.

Living With Ichthyosis

Depending on the type and severity of the disorder, you may find living with ichthyosis to be challenging. However, the following self-care tips may help you manage the disease, improve your health, and enjoy a better quality of life:

  • Take baths to add more moisture to the skin and help remove the scales before applying topical agents.
  • Keep your environment cool. This can help some people with ichthyosis who cannot tolerate heat, have reduced sweating, or have a lot of itching.
  • Heat and air conditioning can produce very dry air. Using a humidifier can help keep moisture in the air and keep the skin from drying out as much.
  • Wear loose-fitting clothes made from materials such as cotton, which may be less irritating to the skin.
  • Use laundry detergents designed for sensitive skin that do not contain a lot of dyes or perfumes.
  • Find a supportive community or join an online support group focused on ichthyosis. Some people may find it helpful to speak to a mental health professional about coping with the disorder. 

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