Synovitis,acne, pustulosis,hyperostosis, osteitis syndrome with invisible organizing pneumonia: A case report

We report the case of a 59-year-old female patient, presenting with pustular rash on both hands and pain in the lumbosacral part and left lower limb. A magnetic resonance imaging examination of the left leg was undertaken and the result showed that a malignant lesion with bone destruction of the left femoral shaft could not be excluded. Subsequently, bone tumor was excluded by pathological examination. Lung computed tomography scan showed patchy consolidation and cord shadow in the middle left lung. Subsequently, lung cancer was excluded by pathological examination, and the histopathological changes of lung were consistent with those of organized pneumonia. Blood tests revealed elevated C-reactive protein and erythrocyte sedimentation rate. Antinuclear antibody, rheumatoid factor, and human leukocyte antigen-B27 were unremarkable. Whole body bone scintigraphy via technetium 99m-methyl diphosphonate showed increased radionuclide uptake in the left middle femur. Based on her clinical manifestations, imaging results and bone scintigraphy, the patient was diagnosed as having synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome. Loxoprofen and Tripterygium wilfordii Hook F led to impressive clinical and radiologic improvement.     

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     

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.     

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.     

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.     

Ilium osteitis as the main manifestation of the SAPHO syndrome: response to infliximab therapy and review of the literature

OBJECTIVE: To analyze the clinical efficacy of anti-tumor necrosis factor (TNF)-alpha therapy in the SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome. We describe 2 new cases with ilium osteitis as the main SAPHO syndrome feature and review reported cases treated with anti-TNF-alpha. METHODS: A literature search of SAPHO syndrome cases treated with TNF-alpha blocking therapy with special emphasis on osteoarticular and skin responses was performed. RESULTS: Eighteen cases were identified: 17 SAPHO syndrome and 1 chronic recurrent multifocal osteomyelitis, a juvenile variant of SAPHO syndrome. Sixteen were reported cases and 2 were nonreported cases seen in our arthritis unit. Sixteen patients received infliximab and 2 received etanercept, with an early, sustained clinical improvement in most cases. CONCLUSIONS: Anti-TNF-alpha therapies are effective treatment for patients with refractory SAPHO syndrome, not only for cutaneous lesions but also for persistent bone lesions such as osteitis.     

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.     

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.     

Severe inflammation associated with synovitis,acne, pustulosis,hyperostosis, osteitis (SAPHO) syndrome was markedly ameliorated by single use of minocycline

Abstract

We describe the case of a 63-year-old female who presented with severe inflammatory spondylitis, refractory to various antibiotics. Mycobacterial and fungal osteomyelitis were unlikely. Although asymptomatic, she also had osteomyelitis in the sternocostoclavicular region, and was suspected of having synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome, against which minocycline showed marked efficacy. The presence of severe inflammatory SAPHO, albeit rare, together with the marked efficacy of tetracycline, should be noted.     

Neutrophilic panniculitis with myelodysplastic syndromes presenting as pustulosis: case report and review of the literature

Neutrophilic panniculitis associated with myelodysplastic syndromes is rare. We report a 59-year-old patient who initially was diagnosed with myelodysplastic syndrome (MDS) and developed a sudden onset of widespread pustulosis and erythematous indurated papules. Examination of skin biopsies of a papule lesion showed dense neutrophilic infiltration limited to the subcutaneous tissue. The pustules and papules disappeared completely after treatment with systemic corticosteroids. To our knowledge, only one patient was identified by MEDLINE search of the English-language literature.     

Fibromyalgia in patients with synovitis,acne, pustulosis,hyperostosis, and osteitis (SAPHO) syndrome: prevalence and screening

Clinical Rheumatology - To explore the prevalence, clinical characteristics, and screening strategy for fibromyalgia (FM) in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis...     

Posttraumatic Vernet syndrome without fracture: A case report and short literature review

Rationale:The aim of this case is to emphasize the need to include nerve traction in the differential diagnosis of nerve deficits associated with Vernet syndrome. This mechanism of injury has been described only once, but must not be overlooked and should be considered and included as a possible cause in diagnostic algorithms.Patient concerns:A patient presenting with dysphagia, extreme hoarseness, and limited shoulder movement after head injury was admitted to the emergency department.Diagnoses:Multidisciplinary evaluation was performed, and nerve traction-induced Vernet syndrome was established as a running diagnosis.Interventions:Intensive swallowing and speech exercises, assisted by a specialist, were performed.Outcomes:Swallowing and speech exercises significantly and objectively improved the patient''s swallowing and voice, with mild hoarseness of voice remaining as the main symptom. Spectral acoustic analysis went from a voice pitch of 163.77 Hz to normal (187.77 Hz), jitter improved from 17.87% to 0.86% and shimmer values decreased from 39.86% to 19.60%. Breathiness during phonation measuring 2.91% was reduced to 1.08% and appropriate average intensity of voice (63.95 dB) was achieved. Initial dysphagia and fluid retention in the right piriform sinus, along with tracheal aspiration, were not observed in control fiberoptic endoscopic evaluation of swallowing.Lessons:According to our knowledge and literature data, this is the second reported case of posttraumatic Vernet syndrome without radiologically confirmed jugular foramen fracture, induced by nerve traction. Such patients need a prompt multidisciplinary approach in diagnosis and timely posttraumatic rehabilitation therapy for favorable clinical evolution and retrieval of nerve function.     

Case report: Successful treatment with tofacitinib and colchicine in a patient with Schnitzler syndrome

We report a case of late-onset Schnitzler syndrome successfully treated with Janus-activated kinase (JAK) inhibitors and colchicine. Schnitzler syndrome should be considered for recurrent chronic urticaria when accompanied by fever, fatigue, rapid weight loss, and poor response to antihistamine treatment. Skin biopsy, bone marrow biopsy, and electrophoresis help confirm the diagnosis. Early diagnosis and treatment can lead to complete resolution of symptoms. Besides interleukin (IL)-1 and IL-6 inhibitors, JAK inhibitors and colchicine may be considered as other choices of treatment.     

Paraneoplastic remitting seronegative symmetrical synovitis with pitting edema (RS3PE syndrome): a report of two cases and review of the literature

We report two cases of paraneoplastic remitting seronegative symmetrical synovitis with pitting edema (RS3PE) associated with prostatic adenocarcinoma. One of the patients was positive for Helicobacter pylori and the other had secondary bone metastases. In the latter, the clinical picture of RS3PE developed after surgical intervention for the primary lesion. On physical examination, while the hands and feet were swollen in the first patient, pitting edema was present only at the feet of the other. All joints of the affected hands and feet were painful. Serological tests including rheumatoid factor, antinuclear antibody, and human leukocyte antigen B27 were all negative. Response to low-dose corticosteroid treatment was delayed in the first patient, but the symptoms were relieved better in the second one.     

Miller Fisher syndrome after COVID-19 vaccination: Case report and review of literature

Rationale:Miller Fisher syndrome (MFS) is a rare variant of Guillain-Barre syndrome, classically diagnosed based on the clinical triad of ataxia, areflexia, and ophthalmoplegia. MFS is usually preceded by viral infections and febrile illness; however, only a few cases have been reported after vaccinations.Patient concerns:A 53-year-old hypertensive male presented with a 2-day history of progressive ascending paralysis of the lower limbs along with diplopia and ataxia, 8 days after the first dose of the Sinovac–Coronavac coronavirus disease 2019 (COVID-19) vaccination, with no prior history of any predisposing infections or triggers.Diagnoses:Physical examination showed moderate motor and sensory loss with areflexia in the lower limbs bilaterally. Routine blood investigations and radiological investigations were unremarkable. Cerebrospinal fluid analysis showed albuminocytologic dissociation and nerve conduction studies revealed prolonged latencies with reduced conduction velocities. The diagnosis of MFS was established based on the findings of physical examination, cerebrospinal fluid analysis, and nerve conduction studies.Interventions:A management plan was devised based on intravenous immunoglobulins, pregabalin, and physiotherapy. However, due to certain socioeconomic factors, the patient was managed conservatively with regular physiotherapy sessions.Outcomes:Follow-up after 6 weeks showed remarkable improvement, with complete resolution of symptoms 10 weeks after the discharge.Lessons:This case suggests that MFS is a rare adverse effect after COVID-19 vaccination and additional research is required to substantiate a temporal association. Further studies are needed to understand the pathophysiology behind such complications to enhance the safety of COVID-19 vaccinations in the future.     

再生障碍性贫血并发Sweet综合征1例报告并文献复习

目的:提高对再生障碍性贫血并发Sweet综合征的认识。方法:报告1例再生障碍性贫血并发Sweet综合征患者的临床资料,并作文献复习。结果:Sweet综合征可发生在未接受粒细胞集落刺激因子治疗的再生障碍性贫血患者中。结论:Sweet综合征并发再生障碍性贫血时粒细胞可减少,应用皮质类固醇治疗有效。     

A rare pediatric case of McCune–Albright syndrome with acute visual disturbance: Case report

Rationale:McCune–Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pain, and orbital neuropathies are complicated. Aneurysmal bone cyst (ABC) is a benign bone tumor and rare complication of FD.Patient concerns:A 9-year-old boy was admitted to our hospital because of acute visual disturbance.Diagnosis and interventions:The patient was clinically diagnosed as ABC complicated with MAS, and he underwent surgery.Outcomes:After the surgery, his sight became normal. Recurrence of ABC and visual disturbance was not observed in 3 years. Genetic analysis of a tissue sample from the ABC lesion by next-generation sequencing revealed a somatic activating GNAS mutation.Lessons:To the best of our knowledge, this is the first case report of MAS causing optic neuropathy complicated with ABC. ABC complicated with MAS is extremely rare, but it should be considered as a possible diagnosis in patients with acute visual loss and facial swelling. In addition, our case had OAS, which is an uncommon syndrome and a rare complication in ABC with MAS, and rapid decompression of the ABC was effective in improving the patient''s eyesight.     

Primary hyperparathyroidism with severe bone disease: osteitis fibrosa cystica vs. fibrous dysplasia. Case report and review of the literature

Primary hyperparathyroidism (HPT) is associated with generalized skeletal changes, its full-blown osseous manifestations known as osteitis fibrosa cystica. Fibrous dysplasia (FD), a benign bone disorder, is differentiated from generalized fibrocystic disease caused by hyperparathyroidism. The classic triad of McCune–Albright syndrome includes polyostotic FD, patchy skin pigmentation, and sexual precocity. Other associated endocrinopathies are hyperthyroidism, Cushing's syndrome, acromegaly, and HPT. We describe a patient with severe generalized and focal bone lesions and sexual precocity. HPT was diagnosed and treated with persistence of cystic bone lesions. The similarities between HPT and FD are discussed, focusing on a possible genetically determined mechanism to explain the relationship between them.