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Painful, reappearing eruption in a medically complex 4-year-old
Meredith Sooy1, Rachel L Randell2, Dmitry Tchapyjnikov3
1Department of Pediatrics, Duke University, Durham, North Carolina, USA meredith.sooy@duke.edu.
BMJ Case Reports
|February 19, 2021
Summary
This study reports the first case of erythromelalgia in a child with DiGeorge and CHARGE syndromes. The condition presented as painful, red swelling episodes, highlighting a novel association.
Area of Science:
- Pediatric Genetics and Rare Diseases
- Dermatology and Clinical Manifestations
Background:
- DiGeorge syndrome and CHARGE syndrome are complex genetic disorders with diverse clinical presentations.
- Erythromelalgia is a rare condition characterized by episodic pain, redness, and warmth, typically in extremities.
Observation:
- A 4-year-old boy with atypical, complete DiGeorge and CHARGE syndromes experienced recurrent episodes of painful, erythematous eruptions with swelling.
- Skin biopsy results during eruptions were non-specific.
- Genetic testing for SCN9A mutations, a known cause of primary erythromelalgia, was negative.
Findings:
- The patient was clinically diagnosed with secondary erythromelalgia.
- This case is the first documented instance of erythromelalgia occurring in the context of co-occurring DiGeorge and CHARGE syndromes.
Implications:
- This association suggests a potential link between these genetic syndromes and the development of secondary erythromelalgia.
- Highlights the importance of considering secondary causes of erythromelalgia in patients with complex genetic disorders.
- Further research may elucidate underlying pathophysiological mechanisms connecting these conditions.
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