BACKGROUND Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in manifestation und therapeutic response. Genetic risk factors have long been assumed in both diseases, but no single reliable factor has been identified yet. Therefore, we aimed to clinically characterize a patient group with syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) (n = 47) and chronic recurrent multifocal osteomyelitis (CRMO)/ chronic non-bacterial osteomyelitis (CNO) (n = 9) and analyze a CRMO candidate gene. METHODS Clinical data of all patients were collected and assessed for different combinations of clinical symptoms. SAPHO patients were grouped into categories according to the acronym; disease-contribution by pathogens was evaluated. We sequenced coding exons of FBLIM1. RESULTS Palmoplantar pustular psoriasis (PPP) was the most common skin manifestation in CRMO/CNO and SAPHO patients; most SAPHO patients had sterno-costo-clavicular hyperostosis. The most common clinical category of the acronym was S_PHO (n = 26). Lack of pathogen detection from bone biopsies was more common than microbial isolation. We did not identify autosomal-recessive FBLIM1 variants. CONCLUSIONS S_PHO is the most common combination of symptoms of its acronym. Genetic analyses of FBLIM1 did not provide evidence that this gene is relevant in our patient group. Our study indicates the need to elucidate SAPHO's and CRMO/CNO's pathogenesis.

中文翻译：

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在典型患者组中，FBLIM1基因的遗传变异不会导致SAPHO综合征和慢性复发性多灶性骨髓炎。

背景技术滑膜炎痤疮脓疱病性骨肥厚性骨炎（SAPHO）和慢性复发性多灶性骨髓炎（CRMO）的综合症表现出两种皮肤病和风湿病疾病，它们在表现形式和治疗反应上是可变的。两种疾病中长期以来都假定有遗传危险因素，但尚未确定任何可靠的因素。因此，我们的目标是对患有滑膜炎，痤疮脓疱病，骨肥厚性骨炎（SAPHO）（n = 47）和慢性复发性多灶性骨髓炎（CRMO）/慢性非细菌性骨髓炎（CNO）（n = 9）的患者群进行临床特征分析，并进行分析CRMO候选基因。方法收集所有患者的临床资料，并评估其临床症状的不同组合。SAPHO患者根据首字母缩写词分为几类；评价了病原体对疾病的贡献。我们对FBLIM1的编码外显子进行了测序。结果掌plant脓疱性牛皮癣（PPP）是CRMO / CNO和SAPHO患者中最常见的皮肤表现。大多数SAPHO患者患有胸肋锁骨肥大症。首字母缩写词最常见的临床类别是S_PHO（n = 26）。缺乏从骨活检中发现病原体的方法比微生物分离更常见。我们没有发现常染色体隐性FBLIM1变异。结论S_PHO是其首字母缩写症状的最常见组合。FBLIM1的遗传分析未提供证据表明该基因与我们的患者组相关。我们的研究表明有必要阐明SAPHO和CRMO / CNO的发病机理。结果掌plant脓疱性牛皮癣（PPP）是CRMO / CNO和SAPHO患者中最常见的皮肤表现。大多数SAPHO患者患有胸肋锁骨肥大症。首字母缩写词最常见的临床类别是S_PHO（n = 26）。从骨活检中缺乏病原体检测比微生物分离更普遍。我们没有发现常染色体隐性FBLIM1变异。结论S_PHO是其首字母缩写症状的最常见组合。FBLIM1的遗传分析未提供证据表明该基因与我们的患者组相关。我们的研究表明有必要阐明SAPHO和CRMO / CNO的发病机理。结果掌plant脓疱性牛皮癣（PPP）是CRMO / CNO和SAPHO患者中最常见的皮肤表现。大多数SAPHO患者患有胸肋锁骨肥大症。首字母缩写词最常见的临床类别是S_PHO（n = 26）。从骨活检中缺乏病原体检测比微生物分离更普遍。我们没有发现常染色体隐性FBLIM1变异。结论S_PHO是其首字母缩写症状的最常见组合。FBLIM1的遗传分析未提供证据表明该基因与我们的患者组相关。我们的研究表明有必要阐明SAPHO和CRMO / CNO的发病机理。首字母缩写词最常见的临床类别是S_PHO（n = 26）。从骨活检中缺乏病原体检测比微生物分离更普遍。我们没有发现常染色体隐性FBLIM1变异。结论S_PHO是其首字母缩写症状的最常见组合。FBLIM1的遗传分析未提供证据表明该基因与我们的患者组相关。我们的研究表明有必要阐明SAPHO和CRMO / CNO的发病机理。首字母缩写词最常见的临床类别是S_PHO（n = 26）。从骨活检中缺乏病原体检测比微生物分离更普遍。我们没有发现常染色体隐性FBLIM1变异。结论S_PHO是其首字母缩写症状的最常见组合。FBLIM1的遗传分析未提供证据表明该基因与我们的患者组相关。我们的研究表明有必要阐明SAPHO和CRMO / CNO的发病机理。