A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.
A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.
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一例严重的原发性红斑性肢痛症，表现为具有新型 SCN9A 突变的小纤维神经病。
DOI：
10.1111/1346-8138.16754
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Amano H.
中科院分区：
文献类型：
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作者：
Watabe D;Tominaga M;Toyama S;Takamori K;Nakano H;Amano H.
原发性红斑性肢痛症（PEM）是一种罕见的疾病，其特征是严重的灼热疼痛，红斑和四肢温度升高。由SCN9A编码的Nav1.7钠通道的突变是PEM的原因。PEM的病理生理机制尚不清楚，但已提出神经源性和血管源性机制的参与。在这里，我们报告了一例9岁儿童的严重PEM，该儿童患有新的SCN 9突变，并检查了受累皮肤中神经纤维的分布和神经肽的表达。基因突变分析显示在SCN 9A的杂合形式中存在新的突变p.L951I（c.2851C>A）。免疫荧光研究表明，表皮内神经纤维减少，在受影响的腿，提示小纤维神经病变。皮损皮肤组织中P物质（SP）或降钙素基因相关肽（CGRP）的表达没有增加。这些发现表明SP和CGRP在原发性红斑性肢痛症的病理生理学中不起主要作用。
Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by theSCN9Aare responsible for PEM. The pathophysiology of PEM is unclear, but the involvement of neurogenic and vasogenic mechanisms has been suggested. Here we report a case of severe PEM in a 9‐year‐old child with a novelSCN9Amutation and examine the distribution of nerve fibers and expression of neuropeptides in the affected skin. Gene mutation analysis revealed a novel mutation p.L951I (c.2851C>A) in the heterozygous form of theSCN9A. An immunofluorescence study showed that intraepidermal nerve fibers were decreased in the affected leg, suggesting small fiber neuropathy. There was no increase in the expression of substance P (SP) or calcitonin gene‐related peptide (CGRP) in the lesional skin tissue. These findings suggest SP and CGRP do not play a major role in the pathophysiology of primary erythromelalgia.