title: Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions.
abstract: : We report a rare case of a patient with AL amyloidosis and pseudoxanthoma elasticum skin lesions. An association between these two diseases has been previously described as amyloid elastosis in only six cases, but cardiac findings were not fully elucidated. The peculiarity of our case is that a severe cardiac involvement influenced the prognosis negatively. Furthermore, the electron microscopic examination did not show all the peculiar histopathological findings of amyloid elastosis, precluding a final diagnosis of this disease.
authors.affiliation: aCardiology, Clinical and Molecular Medicine Department, 'Sapienza' University of Rome, Rome bIRCCS Neuromed, Pozzilli (IS), Italy cPathology Department, 'Sapienza' University of Rome, Rome, Italy.
authors.forename: Maria B
authors.initials: MB
authors.lastname: Musumeci
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Semprini
authors.forename: Matteo
authors.initials: M
authors.lastname: Casenghi
authors.forename: Dalma
authors.initials: D
authors.lastname: Montesanti
authors.forename: Vittoria
authors.initials: V
authors.lastname: Mastromarino
authors.forename: Fabio
authors.initials: F
authors.lastname: Socciarelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Volpe
authors.forename: Camillo
authors.initials: C
authors.lastname: Autore
mesh_terms: D002313:Cardiomyopathy, Restrictive / Q000000981:diagnostic imaging / Q000209:etiology*; D018450:Disease Progression; D004452:Echocardiography; D004562:Electrocardiography; D017809:Fatal Outcome; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D000075363:Immunoglobulin Light-chain Amyloidosis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000175:diagnosis; D012867:Skin / Q000648:ultrastructure; D016896:Treatment Outcome