Paraneoplastic Systemic Sclerosis: A Distinct Entity or A Mere Association - A Case Report

Abstract Background Systemic Sclerosis is a multi-systemic rheumatological disorder which, in due course, progressed to present as ILD (Interstitial Lung Disease), PAH (Pulmonary Arterial hypertension), Scleroderma Renal Crisis etc. The association between Systemic Sclerosis and malignancy is unclear. Still, many malignancies cause skin thickening as a part of the paraneoplastic syndrome, including breast, gastric and skin neoplasms. These paraneoplastic Systemic Sclerosis patients are usually Scl 70 autoantibody negative. Whether it is a coexisting pathology or a paraneoplastic entity is still debatable [5]. Here we present a case of diffuse Systemic Sclerosis with ADPKD (Autosomal Dominant Polycystic Kidney Disease) and hypothyroidism with metastatic epithelial neoplasm of unknown primary with a positive auto-antibody profile for scleroderma. Case Presentation: A 52-year male presented to our ED with a complaint of significant progressive skin tightening over one month associated with increased skin pigmentation. All these symptoms are associated with substantial weight loss, decreased appetite and blurred vision. On examination, BP was 220/120 mm Hg, with deranged renal parameters (Urea 130 mg/dl and Creatinine 9mg/dl). Considering all these findings, D/D were made as Scleroderma Renal crisis or Paraneoplastic Systemic Sclerosis. We found a Supraclavicular LN on examination, which revealed metastatic epithelial malignancy of unknown origin with CK 7 (Cytokeratin 7) and TTF 1 (Transcription Termination Factor) positive on IHC (Immunohistochemistry). LN biopsy revealed a positive insertion mutation in exon 20 of the EGFR (epidermal growth factor receptor) gene, hinting towards an occult Adenocarcinoma of the Lung. The patient started treatment with Erlotinib for occult Adeno Ca of the Lung. He had started with Ramipril, Nifedipine, Clonidine, Prazosin, and MMF for Scleroderma Renal Crisis and skin involvement. HTN was reasonably controlled, and the skin tightening/thickening improved gradually. Conclusions Scl 70 antibodies are usually absent in paraneoplastic scleroderma, but there have been few reports of diffuse Systemic Sclerosis with Scl 70 positivity in the background of malignancy as in the present case. So, for any patient with rapid progression of the disease process irrespective of Scl 70 positivity, it is better to probe an underlying malignancy with imaging or endoscopic modalities thoroughly. Our case report will enlighten clinicians regarding the possibility of malignancy whenever such atypical presentation is encountered.