Pseudoxanthoma Elasticum and Light-Chain Amyloidosis

Abstract

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.We report the case of a 45-year-old man who presented pseudoxanthoma elasticum, associated with light-chain amyloidosis. This association is quite rare, even though in literature there are a few cases reported. This study would like to stress and underline the importance of considering pseudoxanthoma e1asticum as a metabolic disorder and not as a primary elastic disorder. Moreover, we would like to underline the importance of considering that pseudoxanthoma elasticum could favour amyloidogenesis and fibril stabilization. MATERIALS AND METHODSA 45-year-old Caucasian Italian man was admitted to our hospital for the onset of progressively less exertion dyspnea and lower limb edema. A complete medical history was taken and general physical examination was performed. A complete familial medical history was performed. Routine laboratory tests included complete blood count, erythrocyte sedimentation rate, routine biochemistry. Echocardiographic and electrocardiographic tests were carried out, in addition to a cardiac MRI. A bone marrow biopsy, an accessory salivary gland biopsy and a skin biopsy of the affected area were taken. The material was fixed in formalin and embedded in paraffin. Routine histologic skin sections were stained with Hematoxylineosin, Weigert stain and red Congo stain. RESULTS HistoryIn May 2011, a 45-year old man was admitted to our hospital for the onset of progressively less

Impact of Immunity in Autism Spectrum Disorders

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