A Case of SAPHO Syndrome Associated with Lytic Bone Lesions Resembling Metastases / 대한피부과학회지

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome includes a variety of inflammatory bone disorders associated with dermatologic pathology. A 57-year-old female presented with pustulosis on both hands that had persisted for several months. She also had lower back pain without trauma history. On physical examination, tenderness on her lower back and left anterior chest wall pain were found, and claudication was observed. Radiological studies including computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)-CT showed endplate lytic changes in her spine, a focal hypermetabolic lesion in a left rib, and costochondral junction. These findings raised doubt on the presence of metastatic bone lesions, and there was no indication for primary cancer after a complete medical checkup. Palmoplantar pustulosis was well controlled by treatment with acitretin. The osteitis associated with SAPHO syndrome usually presents as osteosclerosis, while reports on osteolytic lesions are rare. We report herein a rare case of SAPHO syndrome associated with bone lesions resembling bone metastasis.

Síndrome SAPHO: Presentación de un caso clínico / SAPHO syndrome. A case report

El síndrome SAPHO incluye cinco entidades: Sinovitis, Acné, Pustulosis, Hiperostosis y Osteítis. Su característica principal es la asociación de múltiples afecciones osteoarticulares inflamatorias con trastornos cutáneos específicos. A propósito del caso clínico de un adolescente de 15 años con síndrome SAPHO, nos propusimos poner en conocimiento de la comunidad científica la importancia del diagnóstico precoz y el tratamiento acertado de esta patología. Las enfermedades de baja prevalencia han originado problemas diagnósticos en la práctica clínica; en el caso del síndrome SAPHO, tiene una demora diagnóstica promedio de ocho meses. El diagnóstico es fundamentalmente clínico. Cabe destacar que es un síndrome generalmente benigno, autolimitado y crónico, con períodos de exacerbaciones y remisiones. La antibioticoterapia y los procedimientos invasivos no son de elección. Nivel de Evidencia: IV

SAPHO syndrome involves synovitis, acne, pustulosis, hyperostosis, and osteitis. Its most important characteristic is the association of osteoarticular inflammatory conditions with specific skin disorders. We present a 15-year-old boy with SAPHO syndrome. The purpose of this paper is to raise awareness within the medical community of the importance of an early diagnosis and correct treatment. Low prevalence diseases have generated diagnostic problems in clinical practice. Delay in diagnosis of SAPHO syndrome averages 8 months. Diagnosis is mainly clinical. This is a generally benign, selflimited and chronic syndrome, with exacerbations and remissions. Antibiotic therapy and invasive procedures are not a choice. Level of Evidence: IV

SAPHO. Puesta al día / SAPHO: Update

SAPHO es un acrónimo en el que se incluye sinovitis, acné, pustulosis, hiperostosis y osteítis, corresponde a una entidad clínica que abarca varias manifestaciones osteoarticulares y dermatológicas que pueden aparecer en el mismo paciente de forma simultánea o sucesiva a lo largo de su vida; tiene características radiológicas importantes al momento de establecer el diagnóstico y su origen es multifactorial interviniendo factores genéticos, sobre todo en los genes LPNI2 y NOD2 ubicados en el cromosoma 18, infecciosos e inmunológicos. Dentro de los aspectos clínicos relevantes destaca la afectación de la pared anterior del tórax que puede ser tan notable como para llegar a producir compresión de las venas subclavia y cava superiores, lo cual puede conducir a trombosis vascular debido a la hiperostosis y a la compresión extrínseca por una masa de partes blandas en el mediastino. Desde su identificación, la primera línea de tratamiento ha sido el uso de AINE; sin embargo, muchos medicamentos inmunosupresores se han desarrollado para su tratamiento, el uso de anti-TNF ha mostrado eficacia para reducir las manifestaciones articulares, óseas y de piel y, por tanto, se ha convertido en una excelente opción para el tratamiento

Síndrome de Sapho: relato de caso clínico / SAPHO syndrome: clinical case report

El síndrome de SAPHO es una condición relativamente rara, la cual designa varios desordenes que gana su nombre del epónimo por la sinovitis, acné, pustulosis, hiperostosis, osteítis. Relato de caso. Masculino, 15 años de edad, blanco, estudiante que hace dos años se encuentra en tratamiento por acné conglobata, que hace dos meses evoluciona con artralgia en pierna izquierda, tarsitis derecha y lumbalgia inflamatoria. Al examen físico se encuentra, palidez cutánea, pies invertidos y planos, rodillas en valgo, sacroileítis acentuada a la izquierda, tarsitis derecha, dolor en entesis (calcáneos) piel con lesiones cutáneas acneiformes extensas en rostro, dorso y tórax anterior. Exámenes complementarios: anemia normocitica y normo crómica, RX: sacro iliacas con señales de sacroileítis bilateral con psuedo alargamiento en la parte izquierda. USG de los pies normales, fondo de ojo: normal, HLAB27: negativa. Se inició indometacina y fisioterapia. Discusión: cuadro clínico de acné, artropatía inflamatoria característica del síndrome SAPHO, tratamiento conservador.

SAPHO syndrome is a relatively rare condition which designates several disorders that gain its name from the eponymous by synovitis, acne, pustular, hyperostosis, osteitis. Case report. Male, 15 years old, white, student who two years ago is in treatment for acne conglobata, who two months ago evolves with left leg arthralgia, right tarsitis and inflammatory low back pain. Physical examination includes skin paleness, inverted and flat feet, valgus knees, left sore sacroiliitis, right tarsitis, pain in entesis (calcaneus) skin with extensive acneiform skin lesions on face, dorsum and anterior thorax. Complementary examinations: normocytic anemia and normal chromosome, RX: iliac sacrum with signs of bilateral sacroiliitis with psuedo elongation in the left side. USG of normal feet. Fundus of eye: normal, HLAB27: negative. Indomethacin and physiotherapy were started. Discussion: clinical picture of acne, inflammatory arthropathy characteristic of SAPHO syndrome, conservative treatment.

A Case Report of SAPHO Syndrome Treated with Oral Alendronate

SAPHO syndrome, characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis is rare compared to other spondyloarthropathies. It is also difficult to diagnose, and treatment methods have not yet been fully identified. Approximately 72% of patients are diagnosed with at least one other disease before a final diagnosis of SAPHO syndrome. In addition, SAPHO syndrome is subject to a delayed diagnosis period of 4.5 to 9.1 years. Medications such as non-steroidal anti-inflammatory drugs, disease-modifying anti-rheumatic drugs, and tumor necrosis factor inhibitors are used in treatment of SAPHO syndrome. Bisphosphonate is also used for refractory SAPHO syndrome; however, most reports on this relate to intravenous injection of medication. The authors experienced and subsequently reported on a case involving a patient with SAPHO syndrome accompanied by fracture and infection of the left second finger who was treated with the oral biphosphonate, alendronate.

A Case of Palmoplantar Pustulosis Present in the Daughter of a SAPHO Syndrome Patient

SAPHO syndrome is a rare inflammatory, pseudoinfectious disease. Initially it was an acronym for Syndrome Acne Pustulosis Hyperostosis Osteitis, and the meaning of S was later changed to synovitis. It occurs predominantly in children and adults and is not common over 60 years. The most common clinical presentation is osteoarticular involvement at the anterior chest wall and skin manifestations may be evident, but it could occur years earlier or develop later. We report on two cases of mother and daughter. A 51-year-old female was diagnosed with SAPHO syndrome with costochondritis and palmoplantar pustulosis. Five years later, her 31-year-old daughter presented with similar skin manifestations of the hand and foot.

SAPHO Syndrome in a Patient with Breast Cancer Mimicking Bone Metastasis: A Case Report

A 66-year-old woman was transferred to our hospital due to her right breast cancer. Preoperative breast MRI shows 1.9 cm malignancy on her right breast (cT1N0M0) and incidentally found osteosclerotic change of left coststernoclavicular region. Bone scintigraphy showed hot uptake and the possibility of bone metastasis was not excluded. However, because the bone metastasis is not common in early stage cancer and the costosternoclavicular region is not common site, other possibility should be considered. SAPHO syndrome can be diagnosed even in the absence of dermatosis when there is an axial or appendicular osteitis and hyperostosis, especially in costosternoclavicular region. Though breast imaging specialists are not accustomed to this disease entity, awareness and diagnosis of the SAPHO syndrome can help differentiate bone metastasis.

A Case of Successful Treatment of Refractory Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome with Adalimumab / 영남의대학술지

Synovitis acne pustulosis hyperostosis osteitis (SAPHO) syndrome is a rare disease that involves the skin, bones and joints. It is thought to be caused by infection with low-toxicity bacteria and to be the result of reactive infectious osteitis. However, this hypothesis has not yet been clearly established. New SAPHO syndrome treatment methods are needed because the disease does not respond to treatment in many cases. In this paper, a case is reported of SAPHO syndrome with pain in the acromioclavicular joint and with squamous and pustular macules on the palms and soles. First, the patient was treated with aceclofenac, prednisolon and sulfasalazine for two weeks. However, the symptoms were not relieved, so methotrexate and pamidronate were added to the treatment. Since no improvement was seen after four weeks of treatment, adalimumab was prescribed. The skin lesions were relieved two weeks later, and the bone pain and arthralgia, four weeks later. No recurrence or adverse effects were observed at the 22-week follow-up.

Clinical Manifestations and Diagnosis of Psoriatic Arthritis / 대한내과학회지

Psoriatic arthritis (PsA) is an autoimmune arthritis related to psoriasis and one of seronegative spondyloarthropathies. PsA provokes joint pain and morning stiffness more than 30 minutes, which is relieved by exercise. PsA usually affects distal small joints and exhibits asymmetry, which is one of the typical characteristics of PsA and gives clues to make a differential diagnosis between PsA and rheumatoid arthritis. Thirty to forty patients with PsA experience arthritis in one large joint or asymmetric multiple joints. Arthritis in distal joints and arthritis mutilans often develop concurrently and patterns of PsA change along with disease progression. Spondylitis is observed in 20-30% of PsA patients. In contrast to ankylosing spondylitis, spondylitis in PsA present with mild clinical symptoms despite radiological progression, inflammation limited to one spinal tract, cervical spine dominance, non-marginal syndesmophytosis. Enthesitis is also one of the typical characteristics of PsA and it frequently affects Achilles tendon, plantar fascia and tendons inserting pelvic bones. Tenosynovitis can develop accompanied by enthesitis. Typical dactylitis (sausage digit), pitting edema and nail lesions, including nail pits, onycholysis, hyperkeratosis and splinter hemorrhage, also contribute to a differential diagnosis of PsA. Anterior uveitis, SAPHO syndrome, amyloidosis and IgA nephropathy are well-known extra-articular manifestation of PsA. In 2006, a new classification-criterion for PsA was suggested by the CASPAR study. The CASPAR criteria included 5 categories with a certain number of points; 1) skin psoriasis, 2) nail lesions, 3) dactylitis, 4) negative RF and 5) bone formation around joints. The CASPAR criteria should be applied to PsA patients having at least one of three (peripheral arthritis, spondylitis and enthesitis).

Tratamiento de síndrome de Sapho con ácido zoledrónico: reporte de caso / Treatment of SAPHO syndrome with zoledronic acid: a case report / Tratamento de síndrome de SAPHO com ácido zoledrónico: reporte de caso

El síndrome Sapho (sinovitis, acné, pustulosis, hiperostosis, osteítis) es una condición crónica e inflamatoria con manifestaciones cutáneas y osteoarticulares. Su etiología no es clara, aunque se ha considerado una posible asociación con las espondiloartritis. Diferentes tratamientos con esteroides y medicamentos antiinflamatorios son utilizados en esta patología, con respuesta variable. Los bisfosfonatos son nuevas modalidades en el tratamiento del síndrome de Sapho, gracias a sus propiedades antiosteoclásticas y antiinflamatorias. Se reporta el caso de un paciente con Sapho exitosamente tratado con ácido zoledrónico.

SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) is a chronic and inflammatory condition, with cutaneous and osteoarticular manifestations. Its etiology is still unclear, although a possible association has been considered between this syndrome and spondylarthropathies. Several types of treatment with steroids and anti-inflammatory drugs are currently used for this condition, obtaining different results. Biphosphonates are a new treatment option for SAPHO syndrome due to their anti-osteoclastic and anti-inflammatory properties. We report the case of a male patient with SAPHO syndrome, who was successfully treated with zoledronic acid.

A síndrome SAPHO (sinovitis, acne, pustuloses, hiperosteoses, osteítes) é uma condição crônica e inflamatória com manifestações cutâneas e ósteo-articulares. Seu etiologia não é clara, ainda que se considerou uma possível associação com as espondiloartritis. Diferentes tratamentos com esteroides e medicamentos antiinflamatórios são utilizados nesta patologia, com resposta variável. Os bisfosfonatos são uma das novas modalidades no tratamento da síndrome de SAPHO, graças a suas propriedades anti-osteoclásticas e anti-inflamatórias. Reporta-se o caso de um paciente com SAPHO tratado com ácido zoledrónico com sucesso

Do you know this syndrome? / Você conhece esta síndrome?

The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) includes a group of findings characterized by bone lesions usually located on the anterior chest wall, often associated with skin lesions. We report the case of a 47 years old patient, with osteochondritis at costoesternal and manubrium-sternal joints, besides of palmar-plantar pustulosis. The diagnosis is predominantly clinical and there are several treatment options described in the literature.

A síndrome SAPHO (sinovite, acne, pustulose, hiperostose e osteíte) inclui um grupo de achados caracterizado por lesões ósseas localizadas geralmente na parede torácica anterior, frequentemente associadas a lesões cutâneas. Relata-se o caso de uma paciente de 47 anos, com quadro clínico composto por osteocondrite de articulação costoesternal e manúbrio-esternal, além de pustulose palmo-plantar. O diagnóstico é predominantemente clínico e há diversas opções de tratamento descritas na literatura.

A Case of Refractory SAPHO Syndrome Treated with Etanercept

SAPHO syndrome, which has different skin changes and osteoarticular inflammation, is an acronym that stands for synovitis, acne, pustulosis, hyperostosis, and osteitis. Treatment of SAPHO syndrome includes non-steroidal anti-inflammatory drugs (NSAIDs), anti-rheumatic drugs, such as colchicines, corticosteroids and bisphosphonates, and disease-modifying agents. However, the treatment of SAPHO syndrome is controversial because it is a new clinical entity with unclear etiopathogenesis and inadequate clinical studies. We report a case with refractory SAPHO syndrome, which was successfully treated with a tumor necrosis factor (TNF)-alpha blocker.

La tuberculosis es un diagnóstico diferencial del síndrome SAPHO / Tuberculosis: a differential diagnosis of SAPHO syndrome

Se presenta un caso clínico de tuberculosis pulmonar y extrapulmonar cuya presentación clínica fue similar a la del síndrome SAPHO. Se destaca la necesidad de incluir a la tuberculosis como un diagnóstico diferencial de esta afección, en especial en los pacientes procedentes de áreas endémicas.

Desafios no diagnóstico e tratamento de um caso de síndrome SAPHO na infância / Challenges in diagnosis and treatment of a case of SAPHO syndrome in

Os autores relatam um caso clínico sobre Síndrome SAPHO, na faixa etária pediátrica, com enfoque dermatológico. Essa entidade deve ser considerada, nos pacientes que tenham dor na parede torácica anterior ou outros sintomas musculoesqueléticos, acompanhados por lesões dermatológicas, como pustulose palmoplantar e acne fulminans. As manifestações cutâneas específicas, diagnóstico e o tratamento utilizado serão apresentados.

The authors report a case of SAPHO Syndrome, in pediatric age, with a dermatological focus. This entity should be considered in patients who have pain in the anterior chest wall or other musculoskeletal symptoms, accompanied by palmoplantar pustulosis and acne fulminans. The specific cutaneous manifestations, diagnosis and the treatment will be presented.

[Juvenile Sapho a two cases reports]

The acronym Sapho syndrome [for synovitis, acne, pustulosis, hyperostosis, osteitis] is a rare entity, particulary in pediatric patients. A 15 year-old and 19 year-old adolescents, with severe acne history, presented inflammatory buttock pain associated to lumbar pain in the first case and sternal pain in the second. Radiographic exploration demonstrated bilateral sacro-iliitis associated to sterno-clavicle arthritis in the second case. Diagnosis of Sapho syndrome was retained. Satisfactory improvement was caused by corticosteroids in the first case and non steroidal anti-inflammatory drugs in the second. Sapho syndrome is rare disease with unknown origin. Non steroidal anti-inflammatory drugs are the treatment of choice, as they are usually both effective and well tolerated

Uso do pamidronato na síndrome SAPHO / Pamidronate treatment in SAPHO syndrome

A síndrome SAPHO é uma condição relativamente rara e ainda pouco diagnosticada, porém com características bem definidas que deram origem ao seu epônimo: Sinovite, Acne, Pustulose, Hiperostose e Osteíte. O diagnóstico é realizado pela análise dos dados clínicos, laboratoriais e exames de imagem, com destaque importante para a cintilografia óssea. O pamidronato é um bisfosfonato de segunda geração que afeta a remodelação óssea e demonstra propriedades antiinflamatórias, sendo uma opção para o tratamento desta entidade. Com este relato de caso, objetivamos lembrar da existência da síndrome SAPHO e do uso do pamidronato em seu tratamento.

Síndrome SAPHO: entidade rara ou subdiagnosticada? / SAPHO syndrome: rare or under - diagnosed?

OBJETIVO: Descrever os achados clínicos, radiológicos e patológicos da síndrome SAPHO e sugerir que, apesar de ser considerada rara, esta síndrome deve estar sendo subdiagnosticada por clínicos e radiologistas, provavelmente em função do desconhecimento das suas características. MATERIAIS E MÉTODOS: Foi realizado estudo retrospectivo de seis casos confirmados desta síndrome, dando-se ênfase aos achados clínicos (idade, sexo e sintomas) e de imagem (cintilografia óssea, radiografia convencional, tomografia computadorizada e ressonância magnética). RESULTADOS: A manifestação clínica inicial de todos os pacientes foi dor na parede torácica ântero-superior há pelo menos quatro meses. Todos apresentavam achados de imagem de processo inflamatório e/ou osteíte e hiperostose nas articulações da parede torácica ântero-superior. As alterações cutâneas da síndrome, tipo pustulose palmoplantar, estiveram presentes em cinco dos seis pacientes. Em nenhum dos seis casos o diagnóstico foi sugerido na consulta clínica inicial ou na primeira interpretação das imagens feita por radiologistas não especialistas em sistema músculo-esquelético. CONCLUSÃO: Os nossos achados estão de acordo com os descritos na literatura, devendo ser considerado este diagnóstico em todo paciente que apresente quadro doloroso de parede torácica acompanhado de manifestações dermatológicas e/ou osteíte.

SAPHO syndrome treated with pamidronate.

A middle aged man presented with a 4 year history of painful swelling of both knees and pustular acne on his back. The MRI scan of the knees showed gross synovitis, so did the histopathology of the synovium. A diagnosis of SAPHO syndrome was made and he was treated with IV pamidronate. His pain reduced and acne completely cleared up on therapy. A dermatologist has rarely made a diagnosis of SAPHO syndrome and treated it.

A Case of SAPHO Syndrome in a Palmoplantar Pustulosis Patient / 대한피부과학회지

SAPHO syndrome is characterized by sternocostoclavicular osteoarthritis and hyperostosis in the anterior chest wall, and skin changes such as palmoplantar pustulosis and acne. Despite the higher frequency of psoriasis in this syndrome, its inclusion in the psoriatic arthropathy spectrum is not yet clearly established to date. According to a familial series of the SAPHO syndrome, both sacroiliac and sternoclavicular joints could be involved. We report a case of SAPHO Syndrome in a palmoplantar pustulosis patient who had on associated osteoarticular manifestation. A 47-year-old woman had been treated for palmoplantar pustulosis for 15 months. Pain and tenderness then developed abruptly on the chest and neck, and multiple erythematous papules and pustules broke our over the whole body. Laboratory tests were negative for serum RA factor and ANA, and positive for HLA-B27. An X-ray showed a hyperostosis, osteolytic and osteosclerotic lesions in the costo-sterno-clavicular junction. 99mTc isotope scan showed the typical "Bull's head sign" in the anterior chest wall due to increased uptake in the manubrium and both sternoclavicular joints.