METHODS: We describe three patients with both scleroderma (SSc; CREST) or sclerodermatous disease (AL amyloidosis) associated with MG/MM.
RESULTS: Case 1: 54 yo woman presented with skin tightening, decreased oral aperture and dysphagia. Forearm biopsy showed Amyloidosis, with 40% lambda-positive plasma cells on bone marrow (BM) biopsy. Amyloid was typed as AL lambda3r (IGV3-1) by N-terminal sequencing of Bence Jones protein, and of tryptic peptides extracted from tissue. The full sequence of patient IgGV3-1 was obtained by amplifying from BM aspirate, comparing to published germ-line and PBMC lambda3r sequences, and AL data bases. Case 2: 75 yo man developed gastric antral vascular ectasia (GAVE), Raynauds, and sclerodactyly after being diagnosed with smoldering MM and an IgG lambda MG. Serologic evaluation was notable for antibodies to RNA polymerase I/III, further defined by whole exome sequence analysis of BM plasma cells. Case 3: 67 yo woman had been diagnosed with IgGk MM 9 years ago, with 10-20% CD138+ k-restricted plasma cells on serial BM biopsies. Two years ago, she developed raynauds and acral ulcerations, and was found to have anti-centromere antibodies. Further evaluation was notable for significantly low C4/C1q and the presence of a cryoglobulin.
CONCLUSIONS: AL Amyloidosis may present as a scleroderma mimic with an increased incidence of MM. The association of MM with Scleroderma rare, and is considered in the context of a broader incidence of gammopathy and cryoglobulinemia.