Diagnostic challenge of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in pediatric age: A monocentric case series

萨福综合征 医学 脓疱病 骨质增生 骨炎 掌跖脓疱病 滑膜炎 皮肤病科 痤疮 炎症性肠病 痹症科 内科学 儿科 疾病 关节炎 外科 银屑病 骨髓炎
作者
Ilaria Maccora,Edoardo Marrani,Valerio Maniscalco,Maria Vincenza Mastrolia,Ilaria Pagnini,Gabriele Simonini
出处
期刊:Modern Rheumatology [Informa]
卷期号:31 (6): 1228-1231 被引量:5
标识
DOI:10.1080/14397595.2021.1892264
摘要

SAPHO syndrome is a rare disease that typically begins in the third-fifth decade of life, and is characterized by osteoarticular and dermatologic features [1]. The acronym summarizes the key clinical features: synovitis, acne, palmoplantar pustulosis, hyperostosis and osteitis [2]. The prevalence of this condition is estimated to be less than 1 per 10,000 people [3]. Several cases have been described in childhood, mostly in adolescents, some associated with other comorbidities. Indeed, the SAPHO clinical spectrum encompasses a wide range of different manifestations which overlap with other autoimmune or autoinflammatory disorders, thus often challenging the diagnosis, particularly in paediatric age [4–6]. If promptly recognized and adequately treated, SAPHO syndrome shows a favourable course. Herein we present a case series of 5 children affected by SAPHO syndrome, diagnosed at our Rheumatology Unit from March 2015 to June 2020, experiencing an excellent response to anti-TNFα. Five Caucasian patients (3 males) with a median age of 12 years and 5 months (range 132-192 months) received a diagnosis of SAPHO syndrome (Table 1). The median time between disease onset and diagnosis was 6 months (range 3–22 months). Patient #1 and #2 had a previous diagnosis of Inflammatory Bowel Diseases (IBD) – Crohn disease (CD) and Ulcerative colitis (UC), respectively; no other previous or concomitant relevant medical conditions were reported for the other patients.
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