ArticleBMC medical genetics2020
Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- [Diagnosis and treatment of chronic nonbacterial osteitis (CNO) and SAPHO syndrome : Implications of the current consensus recommendations of an international commission of experts for German rheumatology].Zeitschrift fur Rheumatologie · 2026Guideline
- CT and MRI features of SAPHO syndrome: a report of 6 cases.BMC musculoskeletal disorders · 2026Article
- [Inflammatory dermatosis in adult chronic non-bacterial osteomyelitis (adult CNO) from a dermatological perspective].Zeitschrift fur Rheumatologie · 2026Article
- [Genetic basis of chronic nonbacterial osteomyelitis].Zeitschrift fur Rheumatologie · 2026Review
- What Is New and What Is Next for SAPHO Syndrome Management: A Narrative Review.Journal of clinical medicine · 2025Review
- A child with Chronic Nonbacterial Osteomyelitis and celiac disease: accidental association or two different aspects of the same condition?Italian journal of pediatrics · 2025Article
- Current and future advances in practice: SAPHO syndrome and chronic non-bacterial osteitis (CNO).Rheumatology advances in practice · 2024Review
- Pyoderma gangrenosum following anti-TNF therapy in chronic recurrent multifocal osteomyelitis: drug reaction or cutaneous manifestation of the disease? A critical review on the topic with an emblematic case report.Frontiers in medicine · 2023Review
- Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review.Frontiers in immunology · 2022Review
- Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Cutis Verticis Gyrata: Case Report and Review of Literature.Clinical, cosmetic and investigational dermatology · 2022Article
- Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants.Pediatric rheumatology online journal · 2021Article
- New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO.Current rheumatology reports · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundSyndrome 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.
methodsClinical 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.
resultsPalmoplantar 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.
conclusionsS_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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.