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Participant 069


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Female, age 13 with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia)

Date of Report

May 23, 2018

Description

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).

Symptoms / Signs
  • Recurrent skin rash
  • Immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity)
  • Muscle pain (myalgia)
  • Stretch marks (striae distensae)
  • Raised area on the skin (skin plaque)
  • Bruising susceptibility
  • Recurrent pneumonia
  • Kidney disorder (congenital nephrotic syndrome)
  • Mildly enlarged spleen (mild splenomegaly)
  • Abdominal pain
  • Prolonged whole-blood clotting time
  • Chronic fatigue
  • Low blood platelet levels (thrombocytopenia)
Current Treatments
Prior Treatments
  • IV steroids (IVIG, methylprednisolone, prednisone) –  autoimmune condition
  • Rituximab – anemia
Considered treatments
Previously Considered Diagnoses
  • CANDLE syndrome
  • Chronic granulomatous disorder
  • Henoch-Schonlein purpura (HSP)
  • Lupus
  • Sweet syndrome
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

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

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