New York University Grossman School of Medicine, New York, NY, USA.
Department of Pediatrics, Hassenfeld Children's Hospital at NYU Langone Medical Center, 160 E 32nd Street, L3 Medical, 10016, New York, NY, USA.
Pediatr Rheumatol Online J. 2022 Oct 5;20(1):87. doi: 10.1186/s12969-022-00744-0.
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a clinical syndrome of unclear etiology. PFAPA has generally been considered a non-hereditary fever syndrome; however, this has been called into question with recent reports of family clustering. Few reports have been published describing siblings with PFAPA. To our knowledge, this is the first report of siblings with near simultaneous onset of disease followed by synchronous disease flares.
We describe the case of near simultaneous onset of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis in siblings followed by synchronous disease flares of clear frequency and nearly identical character. Flares were characterized predominantly by fever, aphthous ulceration, cervical lymphadenitis, and the absence of infection. The fever episodes demonstrated a robust response to glucocorticoids and recurred in the same staggered manner every four weeks, with complete absence of symptoms and normal growth and development between episodes. Nine months after onset, the older sibling, a 5-year-old female, underwent tonsillectomy resulting in dramatic resolution of episodes. At the same time, her 2-year-old sister experienced resolution of her fever episodes, though she did not undergo tonsillectomy herself.
This is an unusual case of simultaneous onset PFAPA followed by synchronous disease flares. PFAPA is an uncommon clinical syndrome, and it is rarely diagnosed in siblings. The etiology of PFAPA remains unclear. Though the disease is classically considered sporadic, there is a growing body of evidence to suggest that PFAPA may be heritable.
周期性发热、口疮性口炎、咽炎和颈淋巴结炎（PFAPA）是一种病因不明的临床综合征。PFAPA 通常被认为是非遗传性发热综合征；然而，最近有家族聚集的报道对此提出了质疑。很少有报道描述 PFAPA 患者的兄弟姐妹。据我们所知，这是首例同时发病且随后同时出现疾病发作的兄弟姐妹病例报告。
我们描述了一对兄弟姐妹同时出现周期性发热、口疮性口炎、咽炎和颈淋巴结炎，随后出现同步疾病发作的病例。疾病发作的频率清晰且特征几乎完全相同。发作的特征主要为发热、口疮性溃疡、颈淋巴结炎和无感染。发热发作对糖皮质激素有明显反应，每四周以相同的交错方式复发，两次发作之间无症状，生长发育正常。发病 9 个月后，5 岁的姐姐行扁桃体切除术，症状明显缓解。与此同时，她 2 岁的妹妹也停止了发热发作，尽管她自己没有行扁桃体切除术。
这是一例罕见的同时发病 PFAPA 随后出现同步疾病发作的病例。PFAPA 是一种不常见的临床综合征，在兄弟姐妹中很少被诊断。PFAPA 的病因仍不清楚。尽管该病通常被认为是散发性的，但越来越多的证据表明 PFAPA 可能具有遗传性。
