Life-threatening hypothermia in a child with primary erythromelalgia.

Bayan Matarneh, Patricia Witman

Pediatric dermatology 2022 Jan

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Primary erythromelalgia is a rare autosomal-dominant condition due to pathogenic variant in the SCN9A gene, characterized by childhood onset of excruciating pain, redness, and warmth of acral sites. Patients often resort to ice water baths and other cooling measures to manage the discomfort. Hypothermia is a rare complication, reported only twice previously. We report a child with primary erythromelalgia due to a confirmed pathogenic variant admitted with life-threatening hypothermia. Although the overuse of cooling mechanisms may have contributed, we postulate that the SCN9A mutation may lead to thermodysregulation and make patients with primary erythromelalgia particularly susceptible to this complication. © 2021 Wiley Periodicals LLC.

Citation

Bayan Matarneh, Patricia Witman. Life-threatening hypothermia in a child with primary erythromelalgia. Pediatric dermatology. 2022 Jan;39(1):135-136