Spinal and sacroiliac involvement in SAPHO syndrome: A single center study of a cohort of 354 patients

ObjectiveSAPHO syndrome is a highly heterogeneous disease with distinct treatment response. We report the largest cohort of SAPHO syndrome and explore its clinical classification with special interest in spinal and sacroiliac involvement.MethodsA total of 354 patients with SAPHO syndrome were recruited in Peking Union Medical College Hospital. The demographic, clinical and imaging data were collected at baseline. Spinal and sacroiliac involvement was determined by the co-existence of related symptoms and imaging evidence of lesions in the spine or sacroiliac joints on either bone scintigraphy, CT or MRI.ResultsA total of 197 (55.6%) patients were identified to have spinal or sacroiliac involvement. Compared to those without spinal or sacroiliac lesions, these patients were significantly older at onset (38 ± 12 vs 35 ± 10 years old, p = 0.019) but had comparable duration of disease. Therapeutically, patients with spinal or sacroiliac involvement had been treated more aggressively with more frequently prescribed NSAIDs, glucocorticoids, DMARDs, TNF-α inhibitors, and bisphosphonates (all p ≤ 0.001). Nonetheless, greater disease activity was observed for these patients at baseline, supported by both inflammatory markers (ESR and hs-CRP) and visual analog scale (VAS) for pain (all p < 0.001).ConclusionsSAPHO patients with spinal or sacroiliac involvement are older at onset and have greater disease activity despite of more aggressive treatments compared to those without. Stratified management is in urgent need for this rare disease.     

Clinical features and radiological findings of 67 patients with SAPHO syndrome

Objectives: The purpose of this study was to facilitate the understanding of the SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis) syndrome by analyzing the clinical and radiological features of 67 Japanese patients with SAPHO syndrome.

Methods: Sixty-seven Japanese patients (female/male: 44/23, mean age at onset: 48.5 years) were diagnosed with SAPHO syndrome from 2002 to 2013 at our hospital. Medical records and radiological imaging of these patients were retrospectively reviewed.

Results: Among the 67 patients, 41 had dermatological manifestations, such as palmoplantar pustulosis, acne, and psoriasis. Initial symptom was local pain in all patients, and the most common initial site of the symptom was the anterior chest. Bacterial and fungal cultures from 20 bone biopsies were all negative. Histopathological diagnosis of the specimens was non-specific inflammation in all cases. Bone lesions were observed in 65 patients (97.0%). On the other hand, articular lesions including enthesitis were found in 31 patients (46.2%).

Conclusion: SAPHO syndrome had different clinical and radiological aspects. The clinical features were not remarkable, except the dermatological manifestations and the involvement of the anterior chest. Bone lesions including hyperostosis and osteitis were found radiographically in the majority of patients with SAPHO syndrome. These are the characteristics of the SAPHO syndrome, with the exclusion of other bone diseases.     

Disease burden,disease manifestations and current treatment regimen of the SAPHO syndrome in Germany: Results from a nationwide patient survey

BackgroundDue to diagnostic and therapeutic advances, quality of life of patients with spondyloarthritides (SpA) has improved substantially in recent years. However, little is known about how patients with the SAPHO syndrome, a heterogeneous disease counted among the SpAs, profit from these advances.ObjectiveTo investigate current aspects of patient care in a nationwide SAPHO cohort.MethodsPatients were recruited in a university centre and via a nationwide SAPHO patient support group. Medical records were reviewed and patients were asked to complete a questionnaire on the course of diagnosis, disease burden and treatment regimen.ResultsA total of 64 patients were included in the analysis. The mean time from disease onset to diagnosis was 3.8 ± 5.3 years. The patients' overall satisfaction with the course of diagnosis was 23.0 ± 28.9 on a visual analogue scale (VAS) from 0 to 100. Musculoskeletal symptoms had the highest impact on the patients' wellbeing. The mean overall disease burden on a VAS for pain was 45.4 ± 25.9. Limitations in the quality of life were reported mainly in the general health, bodily pain and vitality dimensions of the SF-36 questionnaire. Current treatments consisted of NSAIDs (77%), DMARDs (27%), glucocorticoids (23%), TNF-inhibitors (16%) and bisphosphonates (11%).ConclusionsThe SAPHO syndrome has a high impact on the patients' general health and quality of life. Establishing the diagnosis still takes years and expends multiple medical resources. Effective treatments such as TNF-inhibitors are rarely prescribed and current disease burden is not acceptable.     

The SAPHO syndrome: a clinical and imaging study

The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984–2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all “hot joints” showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.     

Exceptional response of skin symptoms to secukinumab treatment in a patient with SAPHO syndrome: Case report and literature review

Rationale:SAPHO syndrome is a rare clinical entity characterized by a wide range of dermatological and musculoskeletal manifestations. Treatment strategies are not standardized. Palmoplantar pustulosis (PPP) is the most common rash in patients with SAPHO syndrome.Patient concerns:A 24-year-old Chinese woman with no relevant medical or familial history had a 1-year history of cutaneous lesions with PPP and pain in the sternoclavicular joint.Diagnosis:Based on the diagnostic criteria for SAPHO syndrome proposed by Nguyen et al in 2012, we diagnosed SAPHO syndrome with severe PPP as the predominant manifestation.Interventions:Due to the limited therapeutic efficacy of methotrexate and cyclosporin, we started therapy with subcutaneous secukinumab 150 mg weekly for the first month, then 150 mg monthly thereafter.Outcomes:After 4 weeks of secukinumab administration, the patient showed significant remission of pustular skin lesions, with almost no joint pain and no adverse reaction. Complete remission of skin symptoms was achieved after 3 months. Joint pain and adverse events have not reoccurred in follow-up thus far.Conclusions:In patients with SAPHO syndrome, we recommend personalized treatment, which may have excellent therapeutic efficacy in those with PPP or severe skin symptoms. Although data related to the use of IL-17 blockers for SAPHO syndrome are very limited, secukinumab provides a novel therapeutic option, especially for patients with PPP and severe skin lesions. Further prospective studies are needed to support our findings.     

Coexistence of Sjögren syndrome in patients with synovitis,acne, pustulosis,hyperostosis, and osteitis syndrome: A retrospective observational study

To identify the prevalence and clinical characteristics of Sjögren syndrome (SS) in a Chinese single-center cohort of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome.Patients diagnosed with SS were screened out from a cohort of 164 cases of SAHPO syndrome. Information regarding the patients’ gender, age at onset, clinical features, laboratory tests, bone scintigraphy, and treatment was reviewed.Five patients were screened out. The prevalence of SS in SAPHO patients was 3.05% The mean onset age of SS was 48.0 ± 12.0 years old and no apparent time order in the occurrence of SAPHO and SS was observed. Compared with the general SAPHO cohort, the 5 SS patients exhibited no significant difference in the SAPHO related clinical features or inflammatory markers, except for a higher prevalence of peripheral joints and bones involvement in bone scintigraphy. Objective evidence of dryness and positive salivary gland biopsy were found in all the patients. However, the positive rates of SSA and SSB antibody were only 20%. Anti-inflammatory treatment for SS was recorded in 3 patients (ESSDAI score: 3 in 2 patients; 12 in 1 patient) with extra-glandular manifestations, severe complications or poor response to the basic treatment.The prevalence of SS is higher in the SAPHO cohort than in the general Chinese population. Objective tests or biopsy might be more indicative than the antibody detection for SS diagnosis. Anti-inflammatory treatment should be prescribed in consideration of both the severity of SS and the demand for disease activity control of SAPHO.     

Admission insulin resistance index in non diabetic patients with acute coronary syndrome; clinical and angiographic features

BackgroundThe clinical implication of insulin resistance has extended beyond diabetes mellitus to include ischemic heart disease, dyslipidemia, hypertension and features of metabolic syndrome. Non diabetic patients with acute coronary syndrome and elevated admission insulin resistance index (AIRI) may have certain clinical angiographic and therapeutic strategies.ObjectivesIt was aimed to illustrate the value of AIRI in non diabetic patients with acute coronary syndrome (ACS) and identify the angiographic CAD severity in relation to AIRI.Study designCross sectional study.Patients and methodsIncludes 120 non diabetic patients presenting with acute chest pain who were admitted to the Coronary Care Unit. Admission glucose and insulin concentration were measured and the AIRI were calculated. ECG was carried out and the cases were grouped as; unstable angina (UA) (40 cases) and acute myocardial infarction (AMI) (40 cases). They were compared to 40 cases of the stable angina (SA) group and the control group (40 cases). The studied cases were examined clinically stressing on the other criteria of insulin resistance syndrome. The following laboratory tests were undertaken including random plasma glucose, HBA1-c, lipid profile, cardiac enzymes (CK-MB, LDH, troponin T). The angiographic study was carried out for patients of each diseased group and 20 cases of the stable angina group.ResultsAIRI was significantly elevated in AMI (3.9 ± 0.1) and UA (3.01 ± 0.2) when compared to the group of SA and the control group. AIRI was significantly higher in AMI when compared to the UA group. Coronary angiography revealed one coronary vessel involvement in 10%, 20%, and 10% of SA, UA and AMI, respectively. While, two vessel involvement was detected in 0%, 30%, and 60% of SA, UA and AMI, respectively. Three coronary vessel disease was not detected in SA but was evident in 5% of UA and 30% of AMI. The relation of AIRI of the studied groups by the calculated Chi-square revealed a significant elevation of AIRI in AMI and UA. Cases with three vessel affection demonstrated higher AIRI.ConclusionElevated AIRI can predict coronary artery events in non diabetic patients with acute chest pain. Multiple coronary vessel involvement is common in such cases and suitable planned invasive therapeutic strategies have to be considered.     

Serum levels of proinflammatory,anti-inflammatory cytokines,and RANKL/OPG in synovitis,acne, pustulosis,hyperostosis, and osteitis (SAPHO) syndrome

Abstract

Objective: To measure the expression of proinflammatory, anti-inflammatory cytokines, and receptor activator NK-κB ligand (RANKL)/osteoprotegerin (OPG) in synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, and to assess the relationship between those factors and disease activity.

Methods: We studied 30 cases of SAPHO syndrome and 15 healthy controls. According to the Visual Analogue Scale (VAS) pain scores and Bath Ankylosing Spondylitis Activity Index (BASDAI), patients were divided into active group and stable group. The serum levels of IFN-γ, TNF-α, TGF-β1, IL-1β, IL-4, IL-6, IL-8, IL-17A, IL-22, RANKL, and OPG were determined by ELISA.

Results: The active group IL-6 (2.34?±?1.31?pg/ml), IL-8 (36.41?±?12.93?pg/ml), and IL-17A (29.17?±?4.01?pg/ml) levels were significantly higher than those in the stable group (p?<?.01) and healthy controls (p?<?.01). RANKL in active group (73.43?±?57.07?pg/ml) was significantly higher than the ones in other groups (p?<?.0001), with increased RANKL/OPG ratio in the active group compared with other groups (p?<?.05). While the level of TGF-β1 in the active group was significantly lower than that in the stable and control groups (p?<?.0001). There was no significant difference with clinical significance were found in IFN-γ, TNF-α, IL-1β, IL-4, IL-22, and OPG.

Conclusion: In active SAPHO patients, there was an anomaly of proinflammatory and anti-inflammatory cytokines balance in SAPHO syndrome.     

Synovitis,acne, pustulosis,hyperostosis, osteitis (SAPHO), and chronic recurrent multifocal osteomyelitis (CRMO): A tale of two cases

BackgroundSAPHO (Synovitis Acne Pustulosis Hyperostosis Osteitis) and CRMO (Chronic Recurrent Multifocal Osteomyelitis) are chronic relapsing osteoarticular disorders with common dermatological manifestations.Aim of the workTo describe a case of SAPHO in an adult and CRMO in a child.Cases presentationCase 1: A 32-year old man presented with dull aching low back pain for 2 years with morning pain/stiffness. On examination there were acneform lesions on the face, tenderness over thoracic spine and swelling of left sternoclavicular joint. Plain x-rays showed sclerosis/widening/irregularity of sternoclavicular joint, sclerosis/irregularity of endplate, loss of disc space with syndesmophytes in mid/lower dorsal spine (D6-11) and sclerosis in middle of left tibia. Magnetic resonance imaging (MRI) spine showed cortical erosions and marrow edema (D6-L1) with findings suggestive of aseptic/inflammatory spondylodiscitis. A bone scan showed increased uptake D7-D12 and mid-third tibia (hyperostosis). Biopsy from D6/D7 showed normal histopathology. Case 2: A 10-year-old girl presented with pain/swelling of right foot for 2 months, pain/swelling of left shoulder and sternoclavicular joint with pustular acne on the face. There was swelling/tenderness over right 5th metatarsal base and left sternoclavicular joint as well as tenderness over proximal humerus. ESR was 65 mm/1^sthr. Plain x-rays showed punched-out lytic lesions surrounded by sclerosis in metatarsal base and metaphysis of humerus. Patient was diagnosed as CRMO.ConclusionSAPHO and CRMO are rare and their diagnosis is sometimes not easy. SAPHO can present as aseptic spondylodiscitis. Both conditions can be diagnosed with clinical and radiological features. A biopsy is necessary for ruling out other conditions.     

A Systematic Review of SAPHO Syndrome and Inflammatory Bowel Disease Association

Background

The association between inflammatory bowel disease (IBD) and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome (SAPHO syndrome) was first reported in 1992. To date, only case reports and short series have been published.

Aims

The purpose of this study was to report new cases and systematically review the literature on this association.

Materials and Methods

All patients with concomitant diagnosis of SAPHO syndrome and IBD were identified from the databases of the rheumatology and gastroenterology departments of our institution. In addition, we systematically searched for published full articles in Medlars Online International Literature via PubMed. Relevant information of each positive match was collected and all authors were contacted for additional clinical data.

Results

Three patients sharing both SAPHO syndrome and IBD were identified among the 62 patients with SAPHO syndrome (4.8 % of the SAPHO cohort) and the 1,309 patients with IBD (0.2 % of the IBD cohort) from our hospital database. After a systematic review, a total of 39 reported patients with concomitant diagnosis of SAPHO syndrome and IBD were identified. There was a female predominance and most had Crohn’s disease with colonic involvement.

Conclusions

The association of SAPHO syndrome and IBD seems to be rare among IBD patients but not so among SAPHO patients. SAPHO could be underdiagnosed because of the similarity of its clinical manifestations and some more common extraintestinal manifestations or drug-related side effects in IBD.     

Clinical and radiologic evolution of synovitis,acne, pustulosis,hyperostosis, and osteitis syndrome: A single center study of a cohort of 71 subjects

Objective

To assess the basic features and outcomes of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome.

Methods

We identified all patients seen in our unit between 1990 and 2008 diagnosed according to the proposed inclusion criteria with SAPHO syndrome, who had a followup of at least 2 years.

Results

Seventy‐one patients (48 women, 23 men) with SAPHO syndrome were identified. The median disease duration at the end of followup was 10 years (interquartile range [IQR] 7–15 years), and the median followup duration was 11 years (IQR 6–11.5 years). Six patients were diagnosed with Crohn's disease. Fourteen patients had never had cutaneous involvement, but 8 patients presented >1 skin manifestation. Nine patients (13%) presented a limited (<6 months) monophasic disease course, 25 cases (35%) had a relapsing–remitting course, and 37 patients (52%) had an acute painful phase with a prolonged course lasting >6 months. A total of 4% of the patients were HLA–B27 positive. Female sex (odds ratio [OR] 7.2, 95% confidence interval [95% CI] 2.2–22.9) and the presence at onset of anterior chest wall (ACW) involvement (OR 5.7, 95% CI 1.8–18.1), peripheral synovitis (P = 0.0036), skin involvement (OR 10.3, 95% CI 3.4–31.1), and high values of acute‐phase reactants (OR 7.7, 95% CI 2.7–22) were correlated with a chronic disease course and involvement of new osteoarticular sites.

Conclusion

A chronic course is the more common evolution of SAPHO syndrome. Female sex, elevated erythrocyte sedimentation rate and C‐reactive protein values, ACW involvement, peripheral synovitis, and skin involvement at the onset seem to be associated with a chronic course.     

Disease burden,disease manifestations and current treatment regimen of the SAPHO syndrome in Germany: Results from a nationwide patient survey

Background

Due to diagnostic and therapeutic advances, quality of life of patients with spondyloarthritides (SpA) has improved substantially in recent years. However, little is known about how patients with the SAPHO syndrome, a heterogeneous disease counted among the SpAs, profit from these advances.

Objective

To investigate current aspects of patient care in a nationwide SAPHO cohort.

Methods

Patients were recruited in a university centre and via a nationwide SAPHO patient support group. Medical records were reviewed and patients were asked to complete a questionnaire on the course of diagnosis, disease burden and treatment regimen.

Results

A total of 64 patients were included in the analysis. The mean time from disease onset to diagnosis was 3.8 ± 5.3 years. The patients' overall satisfaction with the course of diagnosis was 23.0 ± 28.9 on a visual analogue scale (VAS) from 0 to 100. Musculoskeletal symptoms had the highest impact on the patients' wellbeing. The mean overall disease burden on a VAS for pain was 45.4 ± 25.9. Limitations in the quality of life were reported mainly in the general health, bodily pain and vitality dimensions of the SF-36 questionnaire. Current treatments consisted of NSAIDs (77%), DMARDs (27%), glucocorticoids (23%), TNF-inhibitors (16%) and bisphosphonates (11%).

Conclusions

The SAPHO syndrome has a high impact on the patients' general health and quality of life. Establishing the diagnosis still takes years and expends multiple medical resources. Effective treatments such as TNF-inhibitors are rarely prescribed and current disease burden is not acceptable.     

Early- and late-stage morphea subtypes with deep tissue involvement is treatable with Abatacept (Orencia)

ObjectivesThis case series explores the potential efficacy of Abatacept in patients presenting with morphea subtypes and deep tissue involvement.MethodsThree patients with established morphea subtypes and deep tissue involvement and with no contraindication to Abatacept were included in this prospective open-label study. The index patient was exceptionally severely affected with a mean Modified Rodnan Skin Score (MRSS) of 38/51. At baseline, whole-body MRI and skin biopsy were performed which confirmed classical deposition of dense fibrous tissue in the appropriate layer of the skin. MRSS was performed independently by three clinicians and VAS scores (10 cm) were measured at baseline for Patient Global Disease Activity (PGDA), Patient Global Pain (PGP), Patient Day Pain (PDP), Patient Night Pain (PNP), and Physician Global Disease Activity (PhGDA). Patients 2 and 3 were similarly screened at baseline except for MRI. Patients were commenced on Abatacept as per body weight (10 mg/kg) given intravenously with concomitant tapering dose of oral prednisolone. All three were re-assessed at 6 months and the index case was further re-assessed at 18 months.ResultsAll patients tolerated the Abatacept well and showed dramatic improvement. The index patient’s clinical signs and symptoms, whole-body MRI, and mean Modified Rodnan Skin Score improved dramatically from baseline by 37% at 6 months and by 74% at 18 months. There were no clinically significant adverse outcomes noted.ConclusionWe present three cases, one with exceptionally severe disease, which demonstrated excellent clinical response to Abatacept. Abatacept is a promising option for the treatment of severe or resistant morphea, especially in those with deep tissue involvement.     

Shrinking lung syndrome in systemic lupus erythematosus patients with dyspnea

Aim of the workTo identify the frequency of shrinking lung syndrome (SLS) in systemic lupus erythematosus (SLE) with dyspnea and study the clinical characteristics and differences in disease activity and damage.Patients and methodsThe study included 47 SLE patients complaining of dyspnea. SLS was considered in those with exertional dyspnea, restrictive pulmonary function tests (PFTs) and elevated copula of the diaphragm. Full history taking, thorough clinical examination, laboratory and relevant radiological investigations were performed for all the patients. Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and Systemic Lupus International Collaborating Clinics (SLICC) indices were compared. High resolution CT chest was performed for patients with radiological findings consistent with SLS.ResultsThe mean age of the patients was 29.43 ± 7.45 years, mean disease duration 5.18 ± 3.62 years. The SLS was present in 8 patients (17.02%). There was bilateral elevation of the diaphragm copulae in 25% of SLS patients and two had associated basal atelectatic bands. The serum uric acid was significantly higher in those with SLS while the 24 h urine protein was significantly lower and C4 normalized. The levels of SLEDAI and SLICC tended to be lower in those with SLS, yet there was no significant difference from those without. The demographic features, clinical and laboratory manifestations, disease activity and damage scores, PFTs and radiological findings of the SLE patients are presented.ConclusionIn SLE patients with dyspnea, SLS should be looked for as it is present in a high proportion of cases.     

Radiological features of long bones in synovitis, acne, pustulosis, hyperostosis, osteitis syndrome and their correlation with pathological findings

The purpose of this study was to demonstrate the radiological features of long bones in synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome and to correlate these with the clinical findings. Eleven long bone lesions in seven cases of SAPHO syndrome were examined. The patients ranged in age from 6 to 63 years, with a mean of 47 years. In all seven cases, radiography, ^99mtechnetium bone scintigraphy, CT scan, and magnetic resonance imaging (MRI) were performed. In six of the cases, bone biopsy and bone culture were carried out for 7 long bones. Seven of the involved lesions were from the shaft of the femur, one each was from the neck and the shaft of the humerus, and one was from the proximal tibia. These lesions showed radiologically hyperostosis, osteolysis, and bone infarction-like lesion. Osteolysis was occasionally accompanied by sclerotic change. Hyperostosis usually showed diaphyseal involvement, presenting low signal intensity on T₁- and T₂-weighted MR images. Histologically, these findings corresponded to massive bone necrosis, new bone formation, fibrosis, or a mixture of these associated with mild inflammatory cell infiltration. Osteolysis involved dyaphysis, metaphysis, or epiphysis associated with arthritis, and presented low signal intensity on T₁-weighted images, nonhomogeneous signal intensity lower than fat on T₂-weighted images, and high signal intensity on fat suppression images. These findings corresponded to fibrosis, granulation, and inflammatory cell infiltration with lymphocyte aggregation. Bone infarction-like lesion was observed in the shaft or neck of the femur and the humerus and accompanied by calcification and cystic change. Bone cultures were negative in all cases in which bone biopsy was performed. Although hyperostosis is thought to be a characteristic bone lesion in SAPHO syndrome, the long bone lesion can occasionally show not only hyperostosis but also osteolytsis and bone infarction-like lesions. Received: April 17, 2001 / Accepted: August 2, 2001     

Limit of the available spine radiologic scoring methods in ankylosing spondylitis when the facet joint is the only structure involved

BackgroundAnkylosing spondylitis (AS) is a chronic inflammatory disease that affects the axial skeleton and can lead to complete ankylosis of the involved joint. Unfortunately, involvement of the facet joints (FJ) is not evaluated by the available scoring methods that are supposed to quantify the structural damage of the spine.Aim of the workThe aim of the present study we assessed is the involvement of FJ in Tunisian AS patients with low radiological score.Patients and methodsResults of 8 AS patients (7 men; 1 woman) with FJ involvement and low radiological scores were retrospectively studied. Their median age was 36 years, age at onset 26 and disease duration of 10 years. The Bath AS Radiology Index (BASRI) and the Stoke AS Spinal Score (SASSS) were calculated in all patients from the radiographs of lateral cervical spine, anteroposterior and lateral lumbar spine.ResultsAll patients had FJ ankylosis without involvement of the anterior part of the spine. Six patients (75%) had inflammatory back pain and 2 had bilateral hip pain with radiological involvement. Cervical spine limitation was noted in 4 patients. Limited lumbar spine mobility and bilateral sacroiliitis were present in all cases. The HLA-B27 typing was positive in 6/7 cases. Five patients had restrictive lung disease and 3 had osteoporosis.ConclusionInvolvement of FJ in AS may be the only sign of spine damage and may be responsible for functional impairment, however, it is not evaluated by the available radiographic scores which is an important limitation to their use.     

Single-nucleotide polymorphisms p53 G72C and Mdm2 T309G in patients with psoriasis, psoriatic arthritis, and SAPHO syndrome

Psoriasis (Ps), psoriatic arthritis (PsA), and SAPHO syndrome are diseases of unknown etiology that share common clinical features; however, family studies support the hypothesis of a genetic background for each of these diseases. To study the two common single-nucleotide polymorphisms (SNP) in the murine-double-minute-2-(Mdm2) and p53 genes in patients with Ps, PsA, and SAPHO syndrome. Genomic DNA was obtained from 187 patients with Ps, 50 with PsA, and 36 with SAPHO as well as 478 healthy controls. Mdm2-gene SNP T309G and p53-gene SNP G72C genotypes were determined by the polymerase chain reaction. Genotype and allele frequencies were analyzed with χ²-tests. Among the patients with Ps and PsA, no differences in allele or genotype frequencies of the p53-gene SNP G72C and Mdm2-gene SNP T309G were detected. However, in the SAPHO patients group, the frequencies of the Mdm2 SNP309 G allele and the genotype SNP 309 GG were significantly increased compared with the controls (G allele: 51.4 vs. 38.7%, P = 0.034; genotype GG: 36.1 vs. 14.2%, P = 0.002). In addition, the frequencies of the p53 SNP72 C allele and the genotype SNP 72 CC were also increased in the SAPHO patients cohort (C allele: 36.1 vs. 25.6%, P = 0.05; genotype CC: 16.7 vs. 6.3%, P = 0.05). SAPHO syndrome may be linked to an imbalance between MDM2 and p53 regulation with a “weak” p53-response associated with the Mdm2 SNP 309 G allele. In contrast, the p53 network does not seem to play a major role in pathogenesis of Ps or PsA.     

SAPHO syndrome treated with pamidronate: an open-label study of 10 patients

BACKGROUND: In recent years the SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) has been encountered more frequently. However, clinical evidence indicating superiority of a specific therapeutic modality is still absent. Pamidronate, a second-generation bisphosphonate, has a pronounced effect on bone metabolism by suppressing bone resorption. We report our clinical experience with intravenous pamidronate in SAPHO syndrome. METHODS: Between the years 1999 and 2003 we treated 10 patients with the SAPHO syndrome who did not respond to NSAIDs, oral corticosteroids, colchicine, methotrexate, sulphasalazine or infliximab. All patients were treated with 60 mg pamidronate, given intravenously within an hour. In cases of no response a subsequent dose was given within a month and if there was a partial response an additional infusion was given after 4 months. The primary endpoint was the disappearance of recurrent bouts of bone pain, osteitis or hyperostosis, or recurrent synovitis. Reduction of the frequency of attacks by 50% was regarded as a partial response. RESULTS: Seven of the patients were females and three were males. The age at diagnosis ranged from 26 to 68 yr. All patients had axial or peripheral arthritis and cutaneous involvement; three had severe acne, eight had pustulosis and two had concomitant psoriasis vulgaris. Hyperostosis of the anterior chest wall involving either sternocostal or sternoclavicular joints, as seen on technetium 99 bone scintigraphy, was detected in all patients. Complete remission was observed following therapy in six patients, three others partially responded and only one patient had no response. Two patients needed four cycles of pamidronate infusion, one patient needed three, six needed two infusions and one patient remitted following a single pamidronate infusion. In all but one patient pamidronate was effective in preventing recurrent bouts of pustulosis. CONCLUSION: Pamidronate seems to be a very effective mode of therapy for patients with the SAPHO syndrome, by promoting remission in all components of the disorder, such as bone, joint and skin involvement, and ceases the bouts that characterize this disorder.     

Neutrophilic dermatosis and hidradenitis suppurativa in patients with Behçet's disease: A neutrophilic disease in the spectrum of autoinflammatory syndromes

BackgroundAssociation of neutrophilic dermatosis (ND), hidradenitis suppurativa (HS) and Behçet's disease (BD) and shared efficacy of TNFα axis blockade suggests common physiopathology.ObjectivesTo investigate the clinical features and therapeutic response of ND and HS associated with BD.MethodsWe identified 20 patients with ND or HS associated with BD among 1462 patients with BD.ResultsWe analysed 20 (1.4%) patients diagnosed with ND or HS associated with BD: 13 HS, 6 pyoderma gangrenosum (PG), and 1 SAPHO. Our 6 PG cases over 1462 BD patients accounts for 400/100 000 prevalence. Thirteen had bipolar aphthosis, 6 vascular, 5 neurologic, and 4 ocular involvements. All PG occurred on limbs and had typical histology with constant dermal neutrophilic infiltrate. All HS had the classical axillary-mammary phenotype. Sixty-nine percent (69%) of HS were Hurley 1 stage. Treatment consisted mainly in colchicine (n = 20), glucocorticoids (n = 12), and anti-TNFα (n = 9). Interesting results with complete or partial responses were obtained with anti-TNFα (9 cases), ustekinumab (3 cases) and tocilizumab (1 case) to treat refractory ND or HS associated with BD.ConclusionPG seems overrepresented in patients with BD. Biotherapies such as anti-TNFα, ustekinumab and tocilizumab appear to be promising to treat refractory ND or HS associated with BD.