Ocular presentation of the SAPHO syndrome
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《英国眼科学杂志》
Manchester Royal Eye Infirmary and Central Manchester and Manchester Childrens University Hospital NHS Trust, Manchester, UK
Correspondence to:
Mr B Leatherbarrow
Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK; bollin@mighty-micro.co.uk
Accepted for publication 20 January 2005
Keywords: SAPHO syndrome; synovitis; acne; pustulosis; hyperostosis; osteitis
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a seronegative spondylarthropathy. The term, introduced in 1987, describes a syndrome with various previous pseudonyms: multifocal recurrent osteomyelitis; arthritis with acne; and osteitis with pustulosis palmaris and plantaritis.1 Skeletal changes are commonest in the chest wall and skull involvement is uncommon.2,3 We present an unusual case of orbital SAPHO syndrome.
Case report
An 18 year old woman presented with 5 months’ retrobulbar pain, 2 weeks’ decreased vision, and a protruding appearance of her left eye. Previous medical history included thoracic spinal osteomyelitis aged 7. Her grandfather had suffered from a multifocal, recurrent osteomyelitis.
Visual acuity (VA) was 6/6 right eye and 6/9 left eye. There was 3 mm left axial proptosis with restricted elevation. Pupil reactions, colour vision, and funduscopy were normal in both eyes. CT scan showed lytic bone lesions and soft tissue swelling around the left anterior clinoid process and sphenoidal wings (fig 1A).
Figure 1 Axial CT scan images taken during the period July 2001 to October 2003, with arrows highlighting the area of interest in each image. (A) July 2001, showing lytic areas within the bones around the left anterior clinoid process. (B) October 2001, the left lytic areas have been replaced by sclerosis. (C) May 2002, showing lytic areas within the bones around the right anterior clinoid process. (D) October 2003, the right eye changes have resolved.
The episode was treated with oral NSAIDs. Three months later repeat CT showed the previously observed lytic areas had become sclerotic (fig 1B). A bone scan showed uptake in the left orbit and the area of the spine previously affected by osteomyelitis.
Ten months after the left sided presentation she developed headache for 2 days, diplopia, and decreased right vision. VA was 6/36 right eye, with 1 mm proptosis, 2 mm ptosis, and restricted right eye abduction. Pupil reactions, colour vision and funduscopy were normal. CT and MRI (figs 1C and 2) revealed multiple lytic areas around the right anterior clinoid process and sphenoidal wings. Prominence of the right superior orbital vein and optic nerve sheath indicated a degree of orbital apex syndrome. Treatment was with oral NSAIDS and pamidronate infusions. One month later VA was 6/9 right eye, and the other signs had resolved.
Figure 2 A T1 weighted axial MRI scan image taken at presentation of right sided symptoms in May 2002, showing prominent extraosseous enhancement around the right anterior clinoid process, orbital apex, superior orbital fissure, extending to involve the periorbita (arrow).
Eight months later biopsy of a left temporal bone lesion showed a mixture of fibrous tissue, foci of inflammation, and new bone formation. She has not developed any dermatological lesions.
Comment
Diagnosis of SAPHO syndrome depends on one of the following being present: (1) multifocal osteitis without skin manifestations; (2) sterile joint inflammation associated with pustules of palms or soles, psoriasis, acne, or hidradenitis; (3) sterile osteitis in presence of any skin manifestation.4
The pathogenesis is poorly understood. Fibrotic hyperostosis, a process which occurs alone in fibrous dysplasia, follows an initial acute osteolysis. Histologically a mixture of bone necrosis, new bone formation, fibrosis, and inflammation are seen.5 Links to HLA B27, spondyloarthropathy, Crohn’s disease, ulcerative colitis, Beh?et’s disease,6 and Propionibacterium acnes have been suggested. Broad spectrum antibiotic treatment has not been shown to be effective.7
Radiologically, combinations of osteolysis, bone infarction-like lesions, and hyperostosis are seen.8 Differential diagnosis includes suppurative osteomyelitis, metastases, idiopathic orbital inflammation, and Langerhans cell histiocytosis. CT is indispensable in distinguishing these.
Pain is the commonest symptom, usually controlled with NSAIDs alone. Second line agents are pamidronate (anti-osteoclastic and anti-inflammatory) and corticosteroids. Third line agents include sulfasalazine, colchicines, and methotrexate.2,9
This case had the intriguing feature of bilateral optic canal involvement. Management with NSAIDS and pamidronate produced a good outcome.
References
Chamot AM, Benhamou CL, Kahn MF, et al. Le syndrome acne pustulose hyperostose osteite (SAPHO). Résultats d’un enquête nationale. 85 observations. Rev Rhum Mal Osteoartic 1997;54:187–96.
Hayem G, Bouchaud Chabot A, Benali K, et al. SAPHO syndrome: a long term follow up of 120 cases. Sem Arthritis Rheum 1999;29:159–71.
DiMeco F, Clatterbuck RE, Li KW, et al. Synovitis, acne, pustulosis, hyperostosis and osteitis syndrome presenting as a primary calvarial lesion. J Neurosurg 2000;93:693–7.
Kahn MF. Actualite du syndrome SAPHO. Presse Med 1995;24:338–40.
Ouri H, Takahara M, Ishikawa A, et al. Radiological features of long bones in synovitis, acne, pustulosis, hyperostosis, osteitis syndrome and their correlation with pathological findings. Mod Rheum 2002;12:56–63.
Caravatti M, Wiesll P, Uebelhart D, et al. Coincidence of Beh?et’s disease and SAPHO syndrome. Clin Rheumatol 2002;21:324–7.
Leirisalo-Repo M. Enteropathic arthritis, Whipple’s disease, juvenile spondyloarthropathy, uveitis and SAPHO syndrome. Curr Opin Rheumatol 1995;7:284–9.
Foley MR, Moshfeghi DM, Wilson MW, et al. Orbital inflammatory syndromes with sysyemic involvement may mimic metastatic disease. Ophthal Plast Reconstr Surg 2003;19:324–7.
Guignard S, Job Descandre C, Sayaq Bouhris V, et al. Pamidronate treatment in SAPHO syndrome. Joint, Bone, Spine 2002;69:392–6.(M Smith, A Buller, R Radf)
Correspondence to:
Mr B Leatherbarrow
Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK; bollin@mighty-micro.co.uk
Accepted for publication 20 January 2005
Keywords: SAPHO syndrome; synovitis; acne; pustulosis; hyperostosis; osteitis
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a seronegative spondylarthropathy. The term, introduced in 1987, describes a syndrome with various previous pseudonyms: multifocal recurrent osteomyelitis; arthritis with acne; and osteitis with pustulosis palmaris and plantaritis.1 Skeletal changes are commonest in the chest wall and skull involvement is uncommon.2,3 We present an unusual case of orbital SAPHO syndrome.
Case report
An 18 year old woman presented with 5 months’ retrobulbar pain, 2 weeks’ decreased vision, and a protruding appearance of her left eye. Previous medical history included thoracic spinal osteomyelitis aged 7. Her grandfather had suffered from a multifocal, recurrent osteomyelitis.
Visual acuity (VA) was 6/6 right eye and 6/9 left eye. There was 3 mm left axial proptosis with restricted elevation. Pupil reactions, colour vision, and funduscopy were normal in both eyes. CT scan showed lytic bone lesions and soft tissue swelling around the left anterior clinoid process and sphenoidal wings (fig 1A).
Figure 1 Axial CT scan images taken during the period July 2001 to October 2003, with arrows highlighting the area of interest in each image. (A) July 2001, showing lytic areas within the bones around the left anterior clinoid process. (B) October 2001, the left lytic areas have been replaced by sclerosis. (C) May 2002, showing lytic areas within the bones around the right anterior clinoid process. (D) October 2003, the right eye changes have resolved.
The episode was treated with oral NSAIDs. Three months later repeat CT showed the previously observed lytic areas had become sclerotic (fig 1B). A bone scan showed uptake in the left orbit and the area of the spine previously affected by osteomyelitis.
Ten months after the left sided presentation she developed headache for 2 days, diplopia, and decreased right vision. VA was 6/36 right eye, with 1 mm proptosis, 2 mm ptosis, and restricted right eye abduction. Pupil reactions, colour vision and funduscopy were normal. CT and MRI (figs 1C and 2) revealed multiple lytic areas around the right anterior clinoid process and sphenoidal wings. Prominence of the right superior orbital vein and optic nerve sheath indicated a degree of orbital apex syndrome. Treatment was with oral NSAIDS and pamidronate infusions. One month later VA was 6/9 right eye, and the other signs had resolved.
Figure 2 A T1 weighted axial MRI scan image taken at presentation of right sided symptoms in May 2002, showing prominent extraosseous enhancement around the right anterior clinoid process, orbital apex, superior orbital fissure, extending to involve the periorbita (arrow).
Eight months later biopsy of a left temporal bone lesion showed a mixture of fibrous tissue, foci of inflammation, and new bone formation. She has not developed any dermatological lesions.
Comment
Diagnosis of SAPHO syndrome depends on one of the following being present: (1) multifocal osteitis without skin manifestations; (2) sterile joint inflammation associated with pustules of palms or soles, psoriasis, acne, or hidradenitis; (3) sterile osteitis in presence of any skin manifestation.4
The pathogenesis is poorly understood. Fibrotic hyperostosis, a process which occurs alone in fibrous dysplasia, follows an initial acute osteolysis. Histologically a mixture of bone necrosis, new bone formation, fibrosis, and inflammation are seen.5 Links to HLA B27, spondyloarthropathy, Crohn’s disease, ulcerative colitis, Beh?et’s disease,6 and Propionibacterium acnes have been suggested. Broad spectrum antibiotic treatment has not been shown to be effective.7
Radiologically, combinations of osteolysis, bone infarction-like lesions, and hyperostosis are seen.8 Differential diagnosis includes suppurative osteomyelitis, metastases, idiopathic orbital inflammation, and Langerhans cell histiocytosis. CT is indispensable in distinguishing these.
Pain is the commonest symptom, usually controlled with NSAIDs alone. Second line agents are pamidronate (anti-osteoclastic and anti-inflammatory) and corticosteroids. Third line agents include sulfasalazine, colchicines, and methotrexate.2,9
This case had the intriguing feature of bilateral optic canal involvement. Management with NSAIDS and pamidronate produced a good outcome.
References
Chamot AM, Benhamou CL, Kahn MF, et al. Le syndrome acne pustulose hyperostose osteite (SAPHO). Résultats d’un enquête nationale. 85 observations. Rev Rhum Mal Osteoartic 1997;54:187–96.
Hayem G, Bouchaud Chabot A, Benali K, et al. SAPHO syndrome: a long term follow up of 120 cases. Sem Arthritis Rheum 1999;29:159–71.
DiMeco F, Clatterbuck RE, Li KW, et al. Synovitis, acne, pustulosis, hyperostosis and osteitis syndrome presenting as a primary calvarial lesion. J Neurosurg 2000;93:693–7.
Kahn MF. Actualite du syndrome SAPHO. Presse Med 1995;24:338–40.
Ouri H, Takahara M, Ishikawa A, et al. Radiological features of long bones in synovitis, acne, pustulosis, hyperostosis, osteitis syndrome and their correlation with pathological findings. Mod Rheum 2002;12:56–63.
Caravatti M, Wiesll P, Uebelhart D, et al. Coincidence of Beh?et’s disease and SAPHO syndrome. Clin Rheumatol 2002;21:324–7.
Leirisalo-Repo M. Enteropathic arthritis, Whipple’s disease, juvenile spondyloarthropathy, uveitis and SAPHO syndrome. Curr Opin Rheumatol 1995;7:284–9.
Foley MR, Moshfeghi DM, Wilson MW, et al. Orbital inflammatory syndromes with sysyemic involvement may mimic metastatic disease. Ophthal Plast Reconstr Surg 2003;19:324–7.
Guignard S, Job Descandre C, Sayaq Bouhris V, et al. Pamidronate treatment in SAPHO syndrome. Joint, Bone, Spine 2002;69:392–6.(M Smith, A Buller, R Radf)