Pseudoxanthoma elasticum is a heritable disorder of connective tissue characterized by cutaneous, vascular and ocular changes that result from the accumulation of fragmented elastic fibres. Even though the etiopathogenesis is not still completely understood, in recent years in literature some Authors have considered pseudoxanthoma elasticum as a metabolic disorder. We present the case of a 45-year-old man affected by pseudoxanthoma elasticum and light-chain amyloidosis and we discuss the possible reasons that led to this association.
CattanDBoualiBChassaingNMartinezFDupontJMDodeCMartinL. Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum. Br J Dermatol2006; 154(6): 1190–3.
2.
VolpiNMaccariF. Composition of urinary glycosaminoglycans in a patient with pseudoxanthoma elasticum and familial Mediterranean fever. Clin Chim Acta2005; 359(1–2):207–9.
3.
UittoJBercovitchLTerrySFTerryPF. Pseudoxanthoma elasticum: Progress in diagnostics and research towards treatment: Summary of the 2010 PXE International Research Meeting. Am J Med Genet A2011; 155A (7): 1517–26.
4.
ChassaingNMartinLCalvasPLe BertMHovnanianA. Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet2000; 42(12):881–92.
5.
UittoJPulkkinenLRingpfeilF. Molecular genetics of pseudoxanthoma elasticum: A metabolic disorder at the environment-genome interface?Trends Mol Med2001; 7(1):13–7.
6.
JiangQEndoMDibraFWangKUittoJ. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol2009; 129(2):348–54.
Christen-ZächSHuberMStrukBLindpaintnerKMunierFPanizzonRGHohlD. Pseudoxanthoma elasticum: Evaluation of diagnostic criteria based on molecular data. Br J Dermatol2006; 155(1):89–9.
9.
QuaglinoDBoraldiFBarbieriDCroceATiozzoRRonchettiI Pasquali. Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). Biochim Biophys Acta2000; 15:1501 (1):51–62.
10.
MaccariFGheduzziDVolpiN. Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum. Clin Chem2003; 49(3):380–8.
