Pediatric erythromelalgia: A?retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period

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• 作者：Robert H. Cook-Norris ; MD^a ; Megha M. Tollefson ; MD^a ; Andres E. Cruz-Inigo ; BA^c ; Paola Sandroni ; MD ; PhD^b ; Mark D.P. Davis ; MD^a ; Dawn M.R. Davis ; MD^a ; ^{davis.dawnmarie@mayo.edu}
• 关键词：acrocyanosis ; cellulitis ; erythermalgia ; erythromelalgia ; neuropathy ; neurophysiology ; pediatric psychology ; Raynaud phenomenon ; small-fiber neuropathy ; vascular anomalies
• 刊名：Journal of the American Academy of Dermatology
• 出版年：2012
• 出版时间：March 2012
• 年：2012
• 卷：66
• 期：3
• 页码：416-423
• 全文大小：224 K

文摘

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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.