Complement abnormalities in diffuse plane xanthomatosis with paraproteinaemia

Abstract

Paraproteinaemia may be associated with xanthomatous skin deposits and these can arise in the absence of elevated lipid levels. Two cases of benign monoclonal gammopathy with diffuse plane xanthomatosis are reported. Case 1 exhibited hypolipidaemia and a functional deficiency of C1 esterase inhibitor. Case 2 showed a normal lipoprotein profile, abnormal platelet aggregation, and a cutaneous vasculitis with evidence of complement consumption via the classical pathway. The significance of these abnormalities is discussed.

Pathogenesis and treatment of xanthomatosis associated with monoclonal gammopathy

“…The most frequent was in the oral cavity (n ϭ 5). 16,[57][58][59] Others included ophthalmic (n ϭ 2), 57,60 digestive (n ϭ 1), 61 tendinous (n ϭ 1), and muscular (n ϭ 1) 16 localizations. In 1 patient, the aortic valve had been replaced because of severe aortic insufficiency, and its histology revealed the presence of foam and Touton cells.…”

Paraproteinemia-Associated Papular Neutrophilic Xanthoma of the Oral Commissure in a Patient With Myelodysplastic Syndrome

“…1,4 In support of an immunologic mechanism, complement consumption has been observed in a number of studies. 6,7 The histopathological features that distinguish these PNX from other xanthomas occurring in normolipemic patients such as xanthoma disseminatum, diffuse planar xanthoma, and verruciform xanthoma include neutrophilic infiltrate with nuclear dust and leukocytoclasis, as similarly reported by Smith et al 1 …”

Normolipemic Papuloeruptive Xanthomatosis in an Infant

“…This disorder (2) is usually associated with type III hyperlipoproteinemia or familial hypercholesterolemia, and, in certain instances, with hyperlipidemias involving biliary obstruction and quite infrequently monoclonal gammopathy. Moreover, diffuse normolipemic plane xanthoma (8,9), another form of plane xanthoma, may be regarded as idiopathic. However, in other instances, underlying systemic diseases are present with multiple myeloma (9).…”