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SAPHO Syndrome (sapho + syndrome)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

SAPHO syndrome masquerading as metastatic bone disease

JOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 5 2005
NH Theumann
Summary A 46-year-old woman who had had a right mastectomy for breast carcinoma a month before underwent bone scintigraphy. The examination revealed multiple pelvic, vertebral and sternal hot spots suggestive of bone metastases. Standard X-rays and CT confirmed the presence of bony lesions but they were not typical of bone metastases. As the radiographic appearance was reminiscent of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis), bone biopsies were performed. Histology showed fibrosis and hyperostosis but no tumour cells. On further questioning, the patient revealed she had had palmar pustulosis and sacroiliitis some years earlier. The purpose of the case report is to show that accurate diagnosis of SAPHO syndrome requires careful clinical and radiological examinations. [source]

Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome with Associated Neutrophilic Dermatoses: A Report of Seven Cases and Review of the Literature

PEDIATRIC DERMATOLOGY, Issue 5 2009
Brook E. Tlougan M.D.
Classically, patients present with swelling, pain, and impaired mobility of the affected area, with skin lesions developing concurrently or in the future. Bone biopsy reveals inflammatory changes consistent with infectious osteomyelitis, but cultures and histologic staining invariably fail to identify an infectious source. Patients are refractory to antibiotic therapy, but dramatically respond to systemic steroids and may need to be maintained on low-dose steroids to prevent relapse. Numerous authors have suggested that CRMO and synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome lie along the same clinical spectrum. In fact some believe that CRMO is the pediatric presentation of SAPHO. The two syndromes share numerous characteristics, including osteitis, a unifocal or multifocal presentation, hyperostosis, and pustulosis, which all occur in a generally healthy individual. Our seven patients, five of whom were diagnosed with CRMO, and two of whom were diagnosed with SAPHO syndrome further strengthen the idea that CRMO and SAPHO syndrome do indeed lie along the same clinical spectrum. In addition, we include two rare cases of pediatric Sweet's syndrome with evidence of pathergy. [source]

Neutrophil dysfunction in a family with a SAPHO syndrome,like phenotype

ARTHRITIS & RHEUMATISM, Issue 10 2008
Polly J. Ferguson
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is an inflammatory disorder of the bone, skin, and joints. We describe a family with multiple affected members who segregate a SAPHO syndrome,like phenotype, and we report the results of neutrophil studies and candidate gene analysis. We obtained written informed consent and a family history and reviewed medical records. We collected DNA and sequenced candidate genes, and we performed functional studies on neutrophils isolated from the proband and her mother. The pedigree segregated chronic osteomyelitis and cutaneous inflammation in a pattern that suggested an autosomal-dominant disorder. No coding sequence mutations were detected in PSTPIP1,PSTPIP2, LPIN2, SH3BP2, or NCF4. Analysis of neutrophil function in the proband, including nitroblue tetrazolium tests, myeloperoxidase assays, neutrophil chemotaxis, and neutrophil chemotaxis assays, revealed no identifiable abnormalities. However, an abnormality in the luminol, but not the isoluminol, respiratory burst assays following stimulation with phorbol myristate acetate (PMA) was detected in neutrophils isolated from the affected proband. Internal oxidant production was also reduced in the proband and her mother when neutrophils were treated with fMLP with or without platelet-activating factor, PMA alone, or tumor necrosis factor , alone. This family segregates a disorder characterized by chronic inflammation of the skin and bone. Functional differences in neutrophils exist between affected individuals and controls. The biologic significance of this defect remains unknown. Identification of the gene defect will help identify an immunologic pathway that, when dysregulated, causes inflammation of the skin and bone. [source]

Poster 2, Acne fulminans: part of the spectrum of SAPHO

BRITISH JOURNAL OF DERMATOLOGY, Issue 6 2007
S.L. Chua
A 13-year-old boy was admitted to hospital with severe back pain and systemic upset. He had commenced isotretinoin 25 mg (0·5 mg kg,1) daily 17 days previously for severe acne unresponsive to oral erythromycin. Isotretinoin was stopped after 4 days due to severe lower back pain. On admission, he was unable to mobilize and the pain was uncontrolled with oral morphine sulphate. Investigations showed leucocytosis and neutrophilia. Magnetic resonance imaging of the vertebrae showed multiple areas of high signal consistent with an inflammatory process such as osteomyelitis. Oral prednisolone 40 mg daily and ibuprofen controlled the pain within 2 days. Sulfasalazine (1 g twice daily) was commenced 10 days later. The re-introduction of isotretinoin 5 mg daily 12 days after admission precipitated severe back pain, necessitating 3 days of intravenous methylprednisolone. The oral prednisolone dose has been reduced over 6 weeks and stopped. The acne is currently controlled with clindamycin, although there is marked scarring. Acne fulminans is a rare condition characterized by sudden onset of severe acne and systemic features such as fever, leucocytosis and arthralgia.1 Osteomyelitic lesions are a recognized feature. In 1987, the term SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome was proposed to describe a clinical entity with skin, joint and bone manifestations. Associated skin conditions include severe acne, psoriasis and palmoplantar pustulosis. Reported sites of osteoarticular involvement include the anterior chest wall, vertebrae, pelvis and mandible.2 Our patient clearly has acne fulminans and fulfils the criteria for SAPHO syndrome. We believe this condition will be increasingly recognized by dermatologists. References 1 Karvonen S. Acne fulminans: report of clinical findings and treatment of twenty-four patients. J Am Acad Dermatol 1993; 28:572,9. 2 Hayem G, Bouchaud-Chabot A, Benali K et al. SAPHO syndrome: a long-term follow-up study of 120 cases. Semin Arthritis Rheum 1999; 29:159,71. [source]