Four pediatric patients with SSc/myositis overlap syndrome.
| Characteristics | Patient 1 | Patient 2 | Patient 3* | Patient 4 |
|---|---|---|---|---|
| Age at diagnosis and presenting symptoms | 8 y/o M: Hand swelling and contractures, sclerodactyly, faint Gottron papules, rash, elevated muscle enzymes | 6 y/o F: Heliotrope rash, Gottron papules, proximal muscle weakness, elevated muscle enzymes, periungual telangiectases, arthritis | 4 y/o F: Proximal muscle weakness, elevated muscle enzymes, rash | 8 y/o F: Heliotrope rash, Gottron papules, proximal muscle weakness, elevated muscle enzymes |
| Timing and manifesting symptoms suggestive of an overlap syndrome | At diagnosis | 3 yrs after diagnosis developed hand/wrist skin sclerosis, sclerodactyly, livedo reticularis | 9 yrs after diagnosis developed extremity calcinosis, sclerodactyly, skin tightness | 3 ½ yrs after diagnosis developed localized facial scleroderma with hyperpigmentation, calcinosis |
| Laboratory tests | Aldolase 22.7 u/l, CK 343 u/l, ANA 1:640 (nucleolar), anti-Scl-70 (−), ENA panel (−), anticentromere (−), anti-PM/Scl+ by S-35 immunoprecipitation (obtained at diagnosis) | Aldolase 20 u/l, CK 519 u/l, ANA 1:2560 (speckled), anti-Scl-70 (−), ENA panel (−), anticentromere (−), anti-PM/Scl+ by immunodiffusion and S-35 immunoprecipitation (obtained 3 yrs after diagnosis) PRED 31 mos, MTX 24 mos, LEF 3 yrs | ANA 1:160 (nucleolar), anti-Scl-70 (borderline), ENA panel (−), anti-PM/Scl+ by immunodiffusion and S-35 immunoprecipitation (obtained 10 yrs after diagnosis) | Aldolase 6.9 u/l, CK 2354 u/l, ANA 1:2560 (speckled), anti-Scl-70 (−), ENA panel (+) with SS-A (+), anti-RNP (−), anti-PM/Scl+ by immunodiffusion (obtained 4 yrs after diagnosis) |
| Treatment | PRED 2 mos, MTX 7 mos, MMF 1 yr | PRED 31 mos, MTX 24 mos, LEF 3 yrs | PRED many yrs, MTX many yrs, IVIG 8 mos, RTX 4 infusions | PRED 30 mos, MTX 7 yrs, HCQ 3 mos |
| Yrs of followup and current status | 1.6 yr of followup, currently receiving MMF treatment | 15 yrs of followup, received treatment for 8 yrs and remained in remission without treatment for 7 yrs | 15 yrs of followup, received treatment for 13 yrs and remained in remission without treatment for 2 yrs | 8 yrs of followup, received treatment for 6 yrs and remained in remission without treatment for 1 yr |
↵* Patient 3 was cared for at an outside institution for 8 years before transferring care to our institution, and less detailed records are available regarding her diagnosis and treatment during that period (including specific aldolase and CK values). SSc: systemic sclerosis; CK: creatine kinase; ANA: antinuclear antibodies; ENA: extractable nuclear antigen (containing anti-SSA, anti-SSB, anti-Sm/RNP, and anti-RNP antibodies); PRED: prednisone; MTX: methotrexate; MMF: mycophenolate mofetil; LEF: leflunomide; IVIG: intravenous immunoglobulin; RTX: rituximab; HCQ: hydroxychloroquine; PM: polymyositis; Scl: scleroderma.