Diffuse Systemic Sclerosis in a Patient with Primary Biliary Cirrhosis and Autoimmune Hepatitis Overlap Syndrome: A Case Report

Abstract

Systemic sclerosis (SSc) is a chronic systemic disease of unknown etiology characterized by vasculopathy, excessive accumulation of extracellular matrix, and fibrosis of the skin and other internal organs. Although its etiology remains elusive, approximately one third of SSc patients presents with additional autoimmune disease, which suggests that an autoimmune mechanism is a major component of the underlying pathophysiology. On the other hand, primary biliary cirrhosis (PBC) and autoimmune hepatitis (AIH) are two main autoimmune liver diseases. A 41-year-old female previously diagnosed with PBC/AIH overlap syndrome presented with multiple, painful brownish to erythematous firm patches on the hands, arms, axillae, neck, abdomen, and thighs. Laboratory work-up yielded positive results for anti-nuclear antibody, anti-Ro/Sjögren's-syndrome-related antigen A autoantibodies, and perinuclear anti-neutrophil cytoplasmic antibodies while punch biopsy of her left hand showed characteristics that are consistent with scleroderma. Herein, we report the first case of a patient with diffuse cutaneous SSc and concurrent PBC/AIH overlap syndrome and suggest that this coexistence of multiple autoimmune diseases is not a coincidence but rather that a common autoimmune pathogenesis may exist.

Keywords: Autoimmune diseases; Hepatitis; Liver cirrhosis; Scleroderma; autoimmune; biliary; diffuse; systemic.

Fig. 1. Liver specimen showed a moderate portal inflammation with abundant lymphoplasma cells and mild bile duct damage with lymphocytic cholangitis (hematoxylin and eosin, ×200).

Fig. 2. Clinical photographs of the patient on initial visit. (A) Hands, diffusely puffy hands with shiny skin. (B) Left thumb, indurated subcutaneous nodule. (C) Abdomen, widespread discolored indurated patches surrounded by hyperpigmented areas. (D) Back, linear band of firm plaques and pigmentary changes. (E, F) Axillae, salt-and-pepper hypopigmentation and diffuse hyperpigmentation.

Fig. 3. Finger specimen. (A) A ‘square appearance’ in a punch biopsy (hematoxylin and eosin [H&E], ×40). (B) Collagenous fibrosis in the upper and reticular dermis (H&E, ×100).