Presented by: Lauren Ogrich, MD and Herbert Allen, MD
Drexel University College of Medicine
May 16, 2016
Systemic Sclerosis (SSc) is a rare multisystem disease characterized by thickened sclerotic skin. It has an estimated prevalence of 240 cases per 1 million adults in the United States and has an average 10- year survival rate of 70%, although internal organ involvement carries worse prognosis. SSc is further divided into limited cutaneous scleroderma (lcSSc) and diffuse cutaneous scleroderma (dcSSc) based upon skin involvement in acral areas versus truncal skin.
The diagnosis of SSc should be suspected in patients who demonstrate thickening or swelling of fingers. Symptoms of dcSSc are heterogeneous but include Raynaud’s phenomenon, gastroesophageal reflux, calcinosis cutis, digital pitting with loss of fingertip tissue, abnormal nail fold capillaroscopy, sclerodactyly, tendon friction rubs, and perioral skin tightening. Serologic testing can be highly specific for SSc, but unfortunately cannot exclude disease in the absence of positive serologic tests. Antinuclear antibody is positive in 60-80% of patients. The presence of anti- centromere antibodies or anti- Scl-70 has a specificity of dcSSc of 95%, however, sensitivity is low. Anti- RNA polymerase III is also highly specific for SSc and is associated with rapidly progressive skin disease and increased risk of renal crisis.
It has been estimated as high as 25% of patients with rheumatic diseases have an undiagnosed systemic rheumatic disease. Overlap syndromes (OSs) have been defined as entities satisfying classification for two distinct connective tissue diseases in the same patient. Negative myositis-associated autoantibodies have been previously reported in patients with scleroderma/polymyositis overlap syndromes.
SSc treatment has notoriously been disappointing and challenging. Since the disease severity and degree of organ involvement is highly variable between cases, treatment should be tailored towards the patient based on organ involvement. Patients with multiorgan involvement require systemic immunosuppression. The treatment for skin disease is often dictated by visceral organ involvement. The use of mycophenolate mofetil (MMF) has shown to be particularly promising in studies. One retrospective study examining MMF compared to other immunosuppressive agents showed better five-year survival rates and less pulmonary fibrosis. MMF can also be used to treat pulmonary findings in SSc. Alternative therapies directed towards skin manifestations of disease include cyclophosphamide, methotrexate, and cyclosporine.
Management of these patients requires a multidisciplinary approach. Patients presenting with skin findings of scleroderma should be evaluated for lung disease with a high resolution computed tomography, pulmonary function tests, and Doppler echocardiography which can be used as initial assessment for pulmonary hypertension.
Aguila LA, L. M., Zon Pretti, F, Sampaio- Barros, PD, Carlos de Souza, FH, Borba, EF, Shinjo SK. (2014). Clinical and laboratory features of overlap syndromes of idiopathic inflammatory myopathies associated with systemic lupus erythematosus, systemic sclerosis or rheumatoid arthritis. Clin Rheumatol, 2014(33), 1093-1098.
Mimori, T. (1987). Scleroderma-Polymyositis Syndrome Overlap Clinical and Serologic Aspects. International Journal of Dermatology, 26(419-425).
Aguila LA, L. M., Zon Pretti, F, Sampaio- Barros, PD, Carlos de Souza, FH, Borba, EF, Shinjo SK. (2014). Clinical and laboratory features of overlap syndromes of idiopathic inflammatory myopathies associated with systemic lupus erythematosus, systemic sclerosis or rheumatoid arthritis. Clin Rheumatol, 2014(33), 1093-1098.
