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Participant 081


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Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Female, age 47, with painful redness of the feet, hands, and ears (erythromelalgia)

Date of Report

Jul 09, 2018

Description

The participant is a former elementary school teacher who developed painful redness of her feet and hands when she was 44 years old. At first the redness would come and go, but now it is nearly constant. Aspirin provided relief initially but is no longer helpful. Colder temperatures currently provide some relief.

Some of the participant’s other symptoms include an episode of transient vision loss, burning pain in her ears, migraines, and tongue tingling. This tongue tingling went away after taking vitamin B12. However, since she has stopped taking vitamin B12, the tongue tingling returned; now the tingling comes and goes. She also had several events in her 20s and 30s that seemed like seizures but were likely just complex migraines.

Symptoms / Signs
  • Skin redness (erythromelalgia)
  • Vision loss (abnormality of vision)
  • Episodes of burning pain in ears (ear pain)
  • Abnormality of the retina (solitary congenital hypertrophy of retinal pigment epithelium)
  • Nearsightedness (myopia)
  • Limb pain
  • Kidney stone (nephrolithiasis)
  • Migraine
  • Abnormality of the thyroid gland (post-partum thyroiditis)
Current Treatments
  • Aspirin – skin redness
Prior Treatments
  • Carbamazepine, gabapentin – erythromelalgia
  • Vitamin B12 – tongue tingling
Considered treatments
Previously Considered Diagnoses
  • Episodic pain syndrome – negative SCN9A, SCN10A, SCN11A sequencing and deletion/duplication testing
  • Lupus
  • Myeloproliferative disorders
  • Primary erythromelalgia
  • Small fiber neuropathy – normal skin biopsy
Other Photographs
Genetic Variants of Interest
Contact

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