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.