Painful, reappearing eruption in a medically complex 4-year-old.
Painful, reappearing eruption in a medically complex 4-year-old.
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一名病情复杂的 4 岁儿童再次出现疼痛性皮疹。
DOI：
10.1136/bcr-2020-239310
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发表时间：
2021
期刊：
影响因子：
0.9
通讯作者：
Nazareth-Pidgeon,Kristina
中科院分区：
文献类型：
--
作者：
Sooy,Meredith;Randell,RachelL;Tchapyjnikov,Dmitry;Werner,Klaus;Nazareth-Pidgeon,Kristina
一名4岁男孩，患有非典型、完全性DiGeorge和CHARGE（缺损、心脏缺陷、闭锁性choorrhoea、生长迟缓、生殖器异常和耳部异常）综合征，表现为频繁发作的疼痛性、明显的肿胀性皮疹。评估显示出疹时皮肤活检的非特异性结果，SCN9A基因无致病性突变。根据临床表现，患者被诊断为继发性红斑性肢痛症。红斑性肢痛症是一种罕见的疾病，其特征是经常发作的疼痛和红斑，通常影响远端四肢。该病例是第一例在DiGeorge和CHARGE综合征背景下的红斑性肢痛症。
A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. Erythromelalgia is a rare disorder characterised by recurrent episodes of pain and erythema typically affecting the distal extremities. This case represents the first case of erythromelalgia in the setting of DiGeorge and CHARGE syndromes.