Pediatric erythromelalgia: A retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period - 18/02/12
Abstract |
Background |
Erythromelalgia has not been well characterized in the pediatric population.
Objective |
We sought to review our experience of erythromelalgia in the pediatric age group.
Methods |
We conducted a retrospective review of patients 18 years of age and younger with a diagnosis of erythromelalgia who were examined at Mayo Clinic in Rochester, MN, from 1970 to 2007.
Results |
The records of 32 patients (girls, 22 [69%]) were evaluated. Mean age was 14.1 years (range, 5-18 years) and mean time to diagnosis was 5.2 years. Seven patients (22%) had a first-degree relative with erythromelalgia; 4 were from the same family. Physical activity was limited because of discomfort in 21 patients (66%) and school attendance was affected in 11 patients (34%). Noninvasive vascular studies, which compared temperature, laser Doppler flow, and transcutaneous oximetry in the toes, identified vascular abnormalities in 13 (93%) of 14 patients. Neurophysiologic studies with autonomic reflex screening (including quantitative sudomotor axon reflex test and thermoregulatory sweat testing) showed evidence of a small-fiber neuropathy involving the skin in 10 (59%) of 17 patients studied; there was no evidence of large-fiber neuropathy in 20 patients in whom electromyographic and nerve conduction studies were performed. Topical lidocaine was the most commonly prescribed treatment (44%). Fifteen patients were monitored for an average of 9.1 years (median, 5.0 years; range, 0.4-23.7 years). At last follow-up, 5 patients had stable disease, 4 showed improvement, two had resolution, one reported worsening of symptoms, and 3 had died (one suicide).
Limitations |
Conclusions are limited because this was a retrospective chart review.
Conclusion |
Erythromelalgia in pediatric patients is associated with substantial morbidity and even death. The majority of cases are not inherited. Most patients studied have associated small-fiber neuropathy. The disease course is variable. A reliable and safe treatment has not been determined.
Le texte complet de cet article est disponible en PDF.Key words : acrocyanosis, cellulitis, erythermalgia, erythromelalgia, neuropathy, neurophysiology, pediatric psychology, Raynaud phenomenon, small-fiber neuropathy, vascular anomalies
Plan
The first two authors contributed equally to this article. |
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Funding sources: None. |
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Conflicts of interest: None declared. |
Vol 66 - N° 3
P. 416-423 - mars 2012 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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