SAPHO syndrome associated with a digestive disorder in a ten-year-old girl: Diagnostic difficulties

SAPHO syndrome (acronym for synovitis, acne, pustulosis, hyperostosis, osteitis) is a rare dermato-rheumatic entity usually observed in young adults. The clinical manifestations are proteinaceous and without specificity at the origin of inflammatory diseases of the intestine. Our clinical case is that of a ten-year-old girl who presented with chronic and recurrent osteomyelitis of the pelvic limbs on a febrile background, followed by persistent and recurrent pustular lesions. During the same period, because of an acute abdominal pain syndrome accompanied by fever, a biological inflammatory syndrome, and predominantly neutrophilic hyperleukocytosis, laparotomy was performed and no lesions were found. She subsequently presented with intermittent and recurrent spasmodic abdominal pain. In view of these various symptoms, a multidisciplinary consultation concluded that the patient had SAPHO syndrome associated with a digestive disorder, possibly Crohn’s disease. Our clinical case illustrates the diagnostic difficulties of SAPHO syndrome.

SAPHO Syndrome and Pustulotic Arthro-Osteitis (PAO)

ABSTRACTS Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) syndrome is a rare inflammatory osteo-articular disorder, which encompassed many diseases, including pustulotic arthro-osteitis (PAO). Bone and joint manifestations, including osteitis, synovitis and hyperostosis, are the hallmark of the SAPHO syndrome and affect a variety of regions of the body. Recent GRAPPA survey indicated that more than 80 percent of cases of SAPHO syndrome in Japan were thought to be PAO, originally proposed by Sonozaki et al. in 1981, whereas severe acne was the most commonly reported skin ailment amongst participants with SAPHO syndrome in Israel. SAPHO syndrome is a rare disease and adequate data regarding its prevalence remains unavailable, whereas prevalence of PPP was reported to be 0.12 % in Japan and 10-30% of patients with PPP had PAO. SAPHO syndrome and PAO are predominantly found in patients in the third through fifth decades of life, and a female predominance are seen in both groups. The diagnosis of SAPHO syndrome/PAO is typically made by a rheumatologist or dermatologist. Identification of a variety of the clinical, radiological, and laboratory features outlined, as well as diagnostic criteria, are used to make the diagnosis. Goals for treating patients with SAPHO syndrome/PAO seek to maximize health-related quality of life by improving skin and articular symptoms, preventing structural changes and destruction, and normalizing physical function and social participation. Finally, we review the non-pharmacological (ie: smoking cessation and controlling focal infections) and pharmacological managements including NSAIDs, bisphosphonates, cs DMARDs, bDMARDs, and other treatments for SAPHO syndrome/PAO.

Dr. Li et al reply

We appreciate Wang et al1 for their interest in our article2 and for highlighting the pathogenic role of cytokine dysregulation in SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. The authors also address the possible mechanism of secukinumab in the treatment of SAPHO syndrome: blocking the expression of Th17 cell–related cytokines.

Off-label Use of Secukinumab: A Potential Therapeutic Option for SAPHO Syndrome

We read the recent article by Wang et al with great interest.1 The authors described a cohort of 4 patients with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome who showed substantial improvement in skin lesions, clinical conditions, and whole-body magnetic resonance imaging before and after treatment with secukinumab without concomitant conventional synthetic disease-modifying antirheumatic drugs (csDMARDs), nonsteroidal antiinflammatory drugs (NSAIDs), or other biologics, and suggested a potential benefit of secukinumab in the treatment of SAPHO syndrome. However, there are some details that need further clarification.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome of femoral neoplasm-like onset: a case-based review

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an umbrella term covering a constellation of bone lesions and skin manifestations, but has rarely been clarified in the clinic. We report a 28-year-old woman who had initial onset of SAPHO syndrome with involvement of the femur, and she experienced a tortuous diagnostic course. We also performed a literature review of SAPHO syndrome cases involving the femur and summarize several empirical conclusions by integrating previous findings with our case. Furthermore, we propose our perspective that ailment of the skin caused by infection of pathogens might be the first hit for triggering or perpetuating the activation of the immune system. As a result, musculoskeletal manifestations are probably the second hit by crosstalk of an autoimmune reaction. The skin manifestations preceding bone lesions can be well explained. Current interventions for SAPHO syndrome remain controversial, but drugs aiming at symptom relief could serve as the first preference for treatment. An accurate diagnosis and appropriate treatment can cure patients in a timely manner. Although the pathogenesis of SAPHO syndrome remains to be determined, physicians and surgeons still need to heighten awareness of this entity to avoid invasive procedures, such as frequent biopsies or nonessential ostectomy.

Long-Term Follow-Up of SAPHO Syndrome for 15 Years Led to a Diagnosis of Temporomandibular Joint Pain and Trismus

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a systemic disease with symptoms of pustular skin disease and sterile osteoarticular lesions. This disease rarely involves the temporomandibular joint (TMJ). Although it is a disease with a good long-term prognosis, its treatment remains challenging. We describe a case with long-term follow-up of SAPHO syndrome for 15 years in which TMJ pain and trismus led to the diagnosis. A 30-year-old woman with TMJ pain and trismus was referred to our department. Her medical history included palmoplantar pustulosis. Sterile inflammation in the left TMJ and diffuse sclerosing osteomyelitis of the mandible were observed. Thus, she was diagnosed with SAPHO syndrome. The symptoms of severe TMJ pain, trismus, and left cheek swelling presented three times in the 15 years. Symptomatic treatment with nonsteroidal anti-inflammatory drugs, antibiotics, corticosteroids, and bisphosphonates was administered several times. There has been no relapse of symptoms over the past nine years. The patient must be continuously kept under observation to look for the relapse of symptoms.