Diagnosis Of SAPHO Research Articles

A case of SAPHO syndrome: a DISH of radiological features to be considered

BackgroundThe acronym SAPHO stands for synovitis, acne, pustulosis, hyperostosis, and osteitis. It is a rare heterogenous disease with unknown etiology and a chronic relapsing and remitting course1. Its skin and osteoarticular manifestations including palmoplantar pustulosis (PPP) and synovitis may be transient which further complicate the diagnosis. So, awareness about all features of the syndrome throughout the time seems mandatory for correct diagnosis and avoidance of unnecessary procedures.Case presentation.A case of SAPHO syndrome being reported in a middle-aged man who presented with bilateral PPP and exacerbation of back pain which developed shortly after covid-19 vaccine injection with a history of more than 20 years of inflammatory thoracic back pain and psoriasis vulgaris who initially had been worked up for metastatic bony lesions based on radiologic studies, irrespective of his skin lesions. The patient had good response to alendronate 70 mg weekly and celecoxib 200 mg BID without aggravation of existing skin lesions or new psoriatic lesions.ConclusionThis case report aims to inform rheumatologists and radiologists about various radiologic and dermatologic manifestations of SAPHO syndrome with emphasizing on taking into consideration of past and present skin lesions in the interpretation of the radiologic signs in order to prevent irrelevant procedures or hazardous imaging and to urge rheumatology societies to set up a SAPHO registry for future randomized controlled trials. Suggestion of PPP responsiveness to NSAIDs as a new potential diagnostic tool for SAPHO diagnosis is another goal. It also aims to point out the possible coexistence of SAPHO and SpA or DISH syndrome.

Abundance alteration of nondominant species in fecal-associated microbiome of patients with SAPHO syndrome

BackgroundSAPHO syndrome is a group of symptoms consisting of synovitis, acne, pustulosis, hyperostosis and osteosis. There is no specific laboratory index assist in the diagnosis of SAPHO because of its highly heterogeneous clinical manifestations. Pathogenic microorganisms had been identified in biopsies of some SAPHO cases and particular gene mutations were also linked to the occurrence of SAPHO. It is largely unknown whether intestinal microbiome plays a role in pathogenesis of SAPHO. To explore the intestinal microbiome structure of SAPHO syndrome, fecal samples from 17 SAPHO patients and 14 healthy controls (HC) were collected for 16S rDNA sequencing.ResultsOur results showed that there was no significant difference in alpha indexes and beta diversity between SAPHO and HC samples, while there were 14 operational taxonomic units (OTUs) in the Wilcoxon rank-sum test and 42 OTUs in the MetagenomeSeq analysis showed significant difference in distribution between the SAPHO and HC groups, 3 of which in Firmicutes were also observed in the random forest analysis and used to construct a receiver operating characteristic curve to evaluate the diagnostic value, the area under the curve was 0.86.ConclusionFecal-associated microbiome in the SAPHO samples was characterized by the alteration in abundance of some nondominant species, and the 3 selected OTUs in Firmicutes could serve as candidate biomarkers for SAPHO syndrome diagnosis.

Case Report: Sapho Syndrome Previously Mistaken for Paget's Disease

SAPHO syndrome is a rare clinical entity, an acronym named for its frequent coincident clinical manifestations, synovitis, acne, pustulosis, hyperostosis, and osteitis. Its clinical phenotype is widely heterogeneous, which coupled with its rarity causes many misdiagnoses. Herein, we present a case of a patient that was previously diagnosed with Paget’s disease. After an MVA, the full extent of his disease was detected via incidental imaging, which demonstrated sclerosis and ankylosis of the lumbar spine, sclerosis of the clavicles, and the pathognomonic bull’s head configuration on bone scan. Upon further questioning, the patient also harbored intermittent palmar pustulosis, psoriasis, sternoclavicular pain and tenderness, and widespread morning joint stiffness that ameliorates with activity. A high index of suspicion, and knowledge of its variable manifestations are paramount to arrive at a SAPHO diagnosis and thereby provide appropriate therapy to the patient.

SAPHO syndrome: the supposed trigger by isotretinoin, the efficacy of adalimumab and the specter of depressive disorder: a case report

BackgroundSAPHO (synovitis, acne, pustolosis, hyperostosis and osteitis) syndrome is a rare autoinflammatory chronic disorder, presenting with non-infectious osteitis, sterile joint inflammation and skin manifestations including palmoplantar pustolosis and severe acne.It could be often misdiagnosed for its heterogeneous clinical presentation. Treatment is challenging and, due to the rarity of this syndrome, no randomized controlled clinical trials have been conducted. Empirical treatments, including non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, antibiotics and bisphosphonates and disease-modifying anti-rheumatic drugs (DMARDs) could be quite effective. Anti-tumor necrosis factor-alpha (anti-TNF-α) agents and interleukin-1 (IL-1) antagonists have shown promising results in refractory patients. Isotretinoin, commonly used for severe acne, has been rarely described as possible trigger of osteo-articular manifestations, in particular sacroiliitis.Case presentationThe case of a boy, affected by acne fulminans and depression, who presented with sacroiliitis after a 10-week treatment with isotretinoin is presented. After SAPHO diagnosis, NSAIDs therapy was started but the onset of bilateral gluteal hidradenitis suppurativa required the switch to a TNF-α antagonist (Adalimumab) with the achievement of a good control of the disease. Despite specific therapy with sertraline, the patient continued to complains severe depression.ConclusionsOur case reports a temporal association between the onset of osteo-articular symptoms and the introduction of isotretinoin, as previously described. However, this timeline is not sufficient to establish a causal role of this drug into the pathogenesis of sacroiliitis. At this regard, further studies are required. The occurrence of hidradenitis suppurativa during SAPHO course supported the introduction of TNF-α blockers with a favourable result, as reported in a few cases in literature. The association between SAPHO syndrome and depressive mood disorders is already reported. Our patient experienced severe depression whose trend seems to be independent from the course of the main disease. Currently, it is not clarified if depression could be considered reactive to the underling disease or if it forms an integral part of the autoinflammatory disorder.

The Diagnosis and Treatment of Adult Patients with SAPHO Syndrome: Controversies Revealed in a Multidisciplinary International Survey of Physicians

IntroductionThis study aimed to investigate the current practice in the diagnosis and treatment of SAPHO syndrome among the international rheumatology and dermatology communities.MethodsWe conducted an electronic survey among the members of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), the Japan Spondyloarthritis, and Israeli Societies of Rheumatology.ResultsA total of 78 physicians participated in the survey: rheumatologists (83%, n = 65), dermatologists (11.5%, n = 9), and orthopedics (3.8%, n = 3). SAPHO was considered a subtype of spondyloarthritis by 48.7% (n = 38), a subtype of psoriatic arthritis by 19.2% (n = 15), a separate entity by 25.6% (n = 20), and a subtype of reactive arthritis by 6.4% (n = 5). Palmoplantar pustulosis was the most prevalent cutaneous manifestation (n = 44, 56.4%) and anterior chest pain—the most prevalent osteoarticular manifestation (n = 66, 84.6%). The majority (84.6%, n = 66) voted for the update of the present diagnostic criteria by Khan 1994. Magnetic resonance imaging was considered the preferred imaging modality for the diagnosis of SAPHO by 41% (n = 32). Conduction of bone biopsy for diagnosis of non-infectious osteitis was supported only by 10.3% (n = 8). Patient-reported outcomes were considered the most appropriate measure for the assessment of disease activity by 47.4% (n = 37). The treatment approach was overall similar among the rheumatology and dermatology communities, including non-steroidal anti-inflammatory drugs, bisphosphonates, conventional disease-modifying anti-inflammatory drugs, and biologics.ConclusionsOur study underlines the controversy on diagnosis and treatment of SAPHO syndrome among specialists in rheumatology and dermatology and emphasizes an unmet need for update and validation of diagnostic criteria and treatment approach.

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): An Interesting Clinical Syndrome

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare disorder that classically involves the musculoskeletal system, i.e. bone, joint and skin. The exact pathogenesis of this syndrome is unknown. However, autoimmunity, infections, immune malfunction and genetic factors are attributed to its pathophysiology. Bone and joint involvements are the hallmark of SAPHO syndrome and not necessarily require cutaneous involvement at the time of diagnosis. X-ray of the affected joints could show osteitis with sclerosis. Anterior chest wall involvement particularly ''bullhead appearance'' seen on bone scan is a striking feature of the syndrome. Erythrocyte sedimentation rate (ESR) is usually elevated amongst the majority of patients. Diagnosis of SAPHO is always challenging and often delayed because of a multitude of symptoms. The mainstay of treatment is control of pain and inflammation with both non-steroidal anti-inflammatory drugs (NSAIDs) and rescue courses of systemic steroids. If failed to control symptoms with first-line agents and in those with severe disease, disease-modifying anti-inflammatory drugs (DMARDs) may be needed eventually. Despite a chronic inflammatory condition, it remains stable in the majority of cases. Here in this case report, we reiterate the importance of early recognition, timely diagnosis and prompt treatment initiation.

AB0738 SAPHO OR PSORIATIC ARTHRITIS?: EVALUATION OF CASPAR CRITERIA IN A COHORT WITH SAPHO.

Background:SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) is an acronym created with the aim of encompassing within the same entity the findings present in a heterogeneous group of patients with various osteoarticular and cutaneous disorders. For years it has been debated whether it is an entity itself or if, on the contrary, it is a specific phenotype of psoriatic arthritis.Objectives:Determine the relationship between SAPHO syndrome and psoriatic arthritis by comparing the classic criteria of SAPHO with CASPAR in patients previously diagnosed with SAPHO.Methods:A retrospective study where patients with a diagnosis of SAPHO in the same center (1984-2018) were reviewed. Of a total of 95 patients that met the criteria of Benhamou et al., 46 were excluded due to lack of information to complete the minimum necessary data, so 39 patients were finally included in the study. Demographic data were registered, age at diagnosis, CASPAR criteria (active psoriasis, history of own or familial psoriasis, nail psoriasis, negative RF, dactylitis and new formation/juxta-articular bone proliferation), classical criteria of SAPHO and HLAB27. For the statistical analysis, a Chi-square is applied to determine the differences between the groups with / without CASPAR criteria.Results:Of the sample of 39 subjects diagnosed with SAPHO, 15 patients (38%) met CASPAR criteria (4M/11W), with a median age at diagnosis of 42 years (range 21-50). Of them, 8 (60%) had active cutaneous psoriasis, 10 (73%) had a family or personal history of psoriasis, 6 (40%) had psoriatic nail dystrophy, 14 (93%) had negative FR, 3 (20%) had presented some episode of dactylitis and 10 (73%) had juxta-articular new bone formation. Of the 15 patients who met CASPAR criteria, 9 (67%) had synovitis, 2 (13%) acne, 4 (26%) pustulosis, 13 (87%) hyperostosis and 12 (80%) osteitis. HLAB27 was positive in 1 patient (2.5%) of the group that met CASPAR criteria. Of the patients who did not fulfill CASPAR criteria (9M/15W), the median age at diagnosis was 44.5 years (range 10-70). None of them had active cutaneous psoriasis, psoriatic nail distrophy or dactylitis, 1 (4%) had a family or personal history of psoriasis, all had RF- and 3 (12.5%) had juxta-articular bone new formation (Table 1). Synovitis was observed more frequently in patients who met CASPAR criteria than in those who did not (67% vs 25%, p 0.01). In contrast, osteitis was present more frequently in patients who did not meet CASPAR criteria (80% vs 96% p 0.05) and pustulosis, although it was not statistically significant (50% vs 26%, p 0.07). Among patients who did not meet CASPAR criteria only 1 met the 5 classic SAPHO criteria and another 3 met 4.Table 1.Conclusion:Approximately one third (38%) of patients diagnosed with SAPHO meet criteria for psoriatic arthritis, the most notable variables being active psoriasis or a history of psoriasis. Synovitis manifests more frequently in patients with CASPAR criteria and osteitis more present in patients who did not meet them.Acknowledgments:Rheumatology Service of the Germans Trias i Pujol HospitalDisclosure of Interests:None declared

16. TB or not TB? A mistaken case of SAPHO in a 65 year old male

IntroductionSAPHO is a rare syndrome of osteoarticular disorders with associated skin manifestations. The classic constellation of symptoms includes synovitis, acne, pustulosis, hyperostosis and osteomyelitis. Estimated prevalence is 1-4/10,000, but the syndrome is underdiagnosed due to its variable presentation and lack of formal diagnostic criteria. SAPHO is a diagnosis of exclusion and conditions such as infectious osteomyelitis and bone tumours must be eliminated first. We present a case of SAPHO, mistaken for spinal tuberculosis (TB).Case descriptionA 67-year-old Caribbean man with a history of type 2 diabetes mellitus and multiple prolapsed discs requiring surgical fixation presented in 2014 with severe back pain, swinging fevers and weight loss. A CT scan showed sclerosis of T9/10 vertebrae with corresponding bone oedema on an MRI spine. He commenced induction treatment for TB based on radiological features and travel history. Two months later, an MRI spine showed progressive inflammation at T10/11. Blood and tissue samples were negative for acid fast bacilli. Mycobacterium cultures, Interferon-gamma release assay (IGRA) and PCR were negative. However, treatment for TB was continued for a further ten months. Three months later, he re-presented with thoracic back pain and night sweats. MRI showed new inflammation at T6/7 and L3/4 reported as probable osteomyelitis. IGRA, blood and tissue cultures remained negative. Meanwhile, the patient suffered nine episodes of synovitis affecting knees and wrists. Knee X-rays showed end-stage hypertrophic osteoarthritic changes with severe osteophytosis. Synovial biopsies showed inflammatory changes but no evidence of TB.The patient re-presented in 2018 with back pain, sternoclavicular (SC) joint tenderness, painful knee swelling, night sweats and weight loss. Blood and synovial fluid cultures were negative, with calcium pyrophosphate crystals detected in synovial fluid. USS scan of the SC joint showed floridly active right-sided synovitis and synovial thickening on the left. CRP was 350 and he was treated with broad spectrum antibiotics for two weeks for presumed septic arthritis. Rheumatology review was requested when he failed to improve. His constellation of symptoms (synovitis, hyperostosis, osteitis and a history of a pustular rash) suggests a diagnosis of SAPHO. He commenced a weaning prednisolone regime and given zoledronic acid to good effect. Recurrence of symptoms occurred at low dose prednisolone, so he was given IM steroids and commenced on methotrexate.DiscussionSAPHO is underdiagnosed due its variable presentation and the need to first exclude infection and malignancy. The patient’s radiological features consistent with spinal TB and risk of TB exposure delayed diagnosis, despite negative serology and cultures.It is important to be aware that the full constellation of symptoms may not be evident at the time of presentation, or indeed at all in the course of the condition; our patient reported a prior history of a pustular rash on the soles of his feet, although there was no clinical evidence of this at the time of review. Involvement of classically affected joints, including anterior chest wall and thoracic spine, or skin involvement should increase clinical suspicion of SAPHO. NSAIDs and corticosteroids are first line therapy, with DMARDs, biological agents and bisphosphonates used to maintain remission. Key learning pointsPractitioners must consider the possibility of SAPHO, particularly in those with symptoms of osteomyelitis but no identifiable pathogen or who do not respond to antibiotic therapy. High inflammatory markers or high fevers do not preclude its diagnosis. As such, it is important to exclude infection, including osteomyelitis and septic arthritis, and malignancy prior to making a diagnosis.Clinicians should also be aware that the patient may not present with the full SAPHO syndrome; close review of past medical history and questioning about unreported episodes of synovitis or rash may be required to make the diagnosis.Conflicts of interestThe authors have declared no conflicts of interest.

Multimodal imaging findings of SAPHO syndrome with no skin lesions: A report of three cases and review of the literature.

Synovitis, acne, palmoplantar pustulosis, hyperostosis and osteitis syndrome (SAPHO) is a rare syndrome that affects the skin, bones and joints. Diagnosis of SAPHO syndrome is established on clinical appearance and imaging features. The present case report described the imaging features of three cases of SAPHO with sternoclavicular joint arthritis but without skin manifestations using multiple imaging modalities, including computed tomography (CT), magnetic resonance imaging (MRI) and bone scintigraphy. The first case was a 52-year-old male who suffered from progressive sternoclavicular arthritis for 2 years. The second case was a 62-year-old female with arthritis in the larger joints for 5 years, particularly on the right thoracic area. The third case was a 44-year-old male who exhibited a slight bulge accompanied by pain in the upper anterior chest wall for 4 years. All of them lacked cutaneous lesions. CT demonstrated sclerosis and hyperostosis with subchondral erosions in the sternocostoclavicular joints. MRI revealed bone marrow edema that was slightly hypointense on T1-weighted imaging, and hyperintense on T2-weighted imaging. Typical 'bull head' signs were observed in bone scintigraphy images. The present case study demonstrated that SAPHO syndrome should be suspected in patients with multifocal osteitis or arthritis affecting the chest wall that lack skin manifestations. Multimodal imaging modalities in combination are helpful for SAPHO diagnosis.

Imagerie des atteintes rhumatismales de la paroi thoracique antérieure

Sternoclavicular joints, critical structures of the anterior chest wall, may be affected by various pathologic processes. Inflammatory arthropathies of the sternoclavicular and manubriosternal joints are common and must be differentiated from osteoarthritis and septic arthritis. Radiological changes of rheumatoid arthritis include erosion and indistinct cortical margins. Erosions, slight or moderate hyperostosis and partial or complete fusion of the joint have been observed in ankylosing spondylitis, reactive arthritis (Reiter syndrome), and psoriatic arthritis. Hyperostosis and osteosclerosis are characteristic findings of SAPHO. Other findings include joint erosion and ankylosis. The “bull's head” sign (increased radiotracer uptake in the sternal manubrium and both sternoclavicular joints at delayed scintigraphy) is highly specific for the diagnosis of SAPHO and may obviate biopsy.

SAT0535 Diagnosis, Disease Burden and Disease Manifestations of the Sapho Syndrome in Germany: Results from a Nationwide Patient Survey

BackgroundThe term SAPHO syndrome describes a rare, probably underdiagnosed and heterogeneous disease entity. Characteristic disease features include skin, bone and joint manifestations and a predisposition for involvement of the anterior...

AB0548 Sapho syndrome and inflammatory bowel disease: systematic review.

BackgroundThe association of the SAPHO syndrome and inflammatory bowel disease (IBD) was first reported in 1992. To date, only case reports and short series have been published.ObjectivesTo report three new...