title: A case of familial calcific aortic and mitral stenosis in association with hereditary sclerosing poikiloderma.
abstract: Hereditary sclerosing poikiloderma is a rare, familial disease with the primary clinical features being dermatologic. Widespread poikiloderma, as well as linear hyperkeratotic and sclerotic bands, tends to be the most common sign of this disease. It has been suggested that cardiac involvement may represent an important element of this disorder; however, this has not been well studied. We confirm here a case of hereditary sclerosing poikiloderma in a patient and his family with significant cardiac involvement characterized by heavily calcified stenotic aortic and mitral valves on echocardiography. Due to the patient's symptomatic severe valvular disease, he underwent simultaneous aortic and mitral valve replacement. Histopathologic analysis of the valves confirmed severe calcification of the aortic and mitral valve leaflets, suggesting a potential common mechanism between the cardiac and skin pathology of this disease. Multiple other family members had presented with similar cardiac and skin manifestations. Further research is needed to better understand the cardiac pathophysiology of this disease.
authors.affiliation: University of Virginia Health System, Charlottesville, VA, USA.
authors.forename: David
authors.initials: D
authors.lastname: DeMaria
authors.affiliation: University of Virginia Health System, Charlottesville, VA, USA.
authors.forename: Eliany
authors.initials: E
authors.lastname: Mejia-Lopez
authors.affiliation: University of Virginia Health System, Charlottesville, VA, USA.
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Kelting
authors.affiliation: University of Virginia Health System, Charlottesville, VA, USA. Electronic address: vs7q@hscmail.mcc.virginia.edu.
authors.forename: Victor
authors.initials: V
authors.lastname: Soukoulis
mesh_terms: D001021:Aortic Valve / Q000473:pathology*; D001024:Aortic Valve Stenosis / Q000209:etiology / Q000473:pathology*; D002114:Calcinosis / Q000209:etiology / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008946:Mitral Valve Stenosis / Q000209:etiology / Q000473:pathology*; D010375:Pedigree; D012598:Sclerosis / Q000150:complications / Q000473:pathology*; D012868:Skin Abnormalities / Q000150:complications / Q000473:pathology*; D012873:Skin Diseases, Genetic / Q000150:complications / Q000473:pathology*
keywords: Familial syndrome; Valvular heart disease