SAPHO syndrome (acronym for synovitis, acne, pustulosis, hyperostosis and osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. The etiology is unknown.
- Specific challenges associated with the recognition of the condition
Diagnosis, suspected upon clinical examination, must be confirmed with imaging procedures (X-rays, CT, MRI) showing a combination of osteolysis and osteosclerosis with secondary hyperostosis, bone marrow edema, endosteal-periosteal inflammation, perifocal myositis, and adjacent arthritis.
- Specific challenges associated with the diagnosis
Multifactorial triggering of unknown genetic etiology.
- Specific challenges associated with the treatment
Multimodal treatment of uncertain efficacy
- Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care
The disease usually has a chronic evolution, with alternating periods of remission and relapse, sometimes with the appearance of new osteosclerotic lesions. Spontaneous resolution can occur. Complications include impairment of bone and joint function, vascular compression, chronic pain syndrome, and progression towards classical spondyloarthritis.
Incidence : unknown
Prevalence : unknown