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Participant 132


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Female, age 43 with itchy skin inflammation (psoriasiform dermatitis), blood clots in veins (thrombophlebitis), and head and joint pain (arthralgia)

Date of Report

Jun 20, 2019

Description

At age 5, the participant was diagnosed with plaque psoriasis. At age 12, she was diagnosed with an uncommon and more aggressive form of psoriasis, called erythrodermic psoriasis. A few years later at age 18, she developed guttate and inverse psoriasis. She was also diagnosed with psoriatic arthritis at age 16.

For the past 11 years, the participant has experienced sensations of pressure with periodic sharp pains in her head. She also experiences daily persistent headaches. At times she also has double vision, cognitive confusion, and facial and limb weakness. She also experiences extreme pain that she describes as following a narrow path through the body. Recent scans have also shown some heart defects (myocardial bridge, aberrant right subclavian artery).

Her daughter is 18 years old and has many of the same symptoms. Similar to her mother, she has pain in her head and joints. Additionally, she gets numbness and a painful feeling of pins and needles in her arms.

Symptoms / Signs

Shared symptoms:

  • Poor regulation of heart rate when moving from sitting to standing (postural orthostatic tachycardia syndrome)
  • Swelling (edema)
  • Joint pain (arthralgia) and hypermobility
  • Burning/prickling sensation (paresthesia)
  • Infrequent and painful menses (oligomenorrhea, dysmenorrhea)
  • Chronic headaches
  • Raynaud’s disease
  • Ehlers-Danlos syndrome, type III
  • Asthma

Mother only:

  • Itchy skin inflammation (psoriasiform dermatitis)
  • Blood clots in veins (thrombophlebitis)

Daughter only:

  • Visual loss
Current Treatments

Mother:

  • Aspirin – anti-inflammatory
  • Cilostazol – vasodilator
  • Methotrexate – immunosuppressant
  • Mycophenolic acid – immunosuppressant
  • Pentoxifylline – vasodilator

Daughter:

  • Hydroxychloroquine – immunosuppressant
  • Rizatriptan – migraines
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Ehlers-Danlos syndrome (vascular type)
Other Photographs
Genetic Variants of Interest
Contact

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