May 23, 2018
The participant was healthy and developing normally until 10 years old when she started experiencing fatigue and weakness. She developed hive-like skin findings that covered her whole body. These went away on their own but came back over time, each time more severely than before. They were thought to be caused by a virus. A month and a half later, she developed another hive-like, red and raised rash (ecchymotic rash) and tongue swelling. This went away with IV steroids. At this time, she was thought to have a condition called Henoch-Schonelin purpura. Anticardiolipin antibody levels (IgM) were also elevated.
Although the patient’s symptoms initially went away with IV steroids, they came back once she was tapered off steroids. A skin biopsy was taken and showed neutrophilic dermatosis. As a result, the participant was given a diagnosis of Sweet syndrome, which was not thought to be drug-induced or malignancy-related. A bone marrow biopsy done at this time was normal. A CT scan of her neck showed inflammation of the soft tissues (phlegmon).
Some of her other symptoms include hemolytic anemia, recurrent pneumonia, kidney problems (congenital nephrotic syndrome), and muscle pain (myalgia).
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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