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Participant 165


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Female, age 48 with itchy skin inflammation (atopic dermatitis) and allergies (allergic rhinitis) caused by a change in the FLG gene

Date of Report

Jul 02, 2020

Description

At age 44, the participant developed a severe rash on her face, neck and inner elbows. She had UV light treatment which caused the rash to spread to the bottom of the chin and the chest. The rash is described as warm red patches that are not itchy or flaky. Sun exposure causes the patches to feel prickly; allergen exposure causes them to become very itchy and increases the swelling and burning. She has weekly flares in which the patches become itchy and burn. She also developed joint pain and swelling, fatigue and chills. The participant also has allergies (allergic rhinitis).

The participant had an extensive workup with many specialists and had allergy testing; however, elimination or avoidance of allergens did not result in improvement.

Symptoms / Signs
  • Itchy skin inflammation (atopic dermatitis)
  • Inflammatory abnormality of the skin
  • Skin redness (erythema)
  • Joint pain (arthralgia)
Current Treatments
  • Benadryl, loratadine, hydrocortisone, prednisone – rashes, allergies
Prior Treatments
  • Plaquenil – inflammation
Considered treatments
Previously Considered Diagnoses
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
FLG
see gene page
see gene page
see gene page
see gene page
see gene page
Contact

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