Sooy Meredith, Randell Rachel L, Tchapyjnikov Dmitry, Werner Klaus, Nazareth-Pidgeon Kristina
Department of Pediatrics, Duke University, Durham, North Carolina, USA
Division of Pediatric Rheumatology, Department of Pediatrics, Duke University, Durham, North Carolina, USA.
BMJ Case Rep. 2021 Feb 18;14(2):e239310. doi: 10.1136/bcr-2020-239310.
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.
一名患有非典型完全性DiGeorge综合征和CHARGE（眼裂、心脏缺陷、后鼻孔闭锁、生长发育迟缓、生殖器异常和耳部异常）综合征的4岁男孩，出现频繁发作的伴有肿胀的疼痛性、明显红斑疹。评估发现在出疹时皮肤活检结果无特异性，且SCN9A基因无致病突变。根据临床表现，该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疾病，其特征为疼痛和红斑反复发作，通常累及远端肢体。本病例是DiGeorge综合征和CHARGE综合征背景下的首例红斑性肢痛症病例。
