Abstract #: 243 Pseudoxanthoma Elasticum and Clotting Factor Deficiency in a Pregnant Patient
ثبت نشده
چکیده
: 243 Pseudoxanthoma Elasticum and Clotting Factor Deficiency in a Pregnant Patient Presenting Author: Kayla R. O'Toole MD Presenting Author's Institution: Washington University in Saint Louis School of Medicine Saint Louis, Missouri Co-Authors: Barbara L. Leighton MD Washington University in Saint Louis School of Medicine Saint Louis, Missour
منابع مشابه
Two cases of pseudoxanthoma elasticum with renal involvement
Abstract Pseudoxanthoma elasticum is a rare, hereditary, multisystemic disease affecting the skin, eye, and cardiovascular system. Renal involvement is uncommon. We describe two cases of pseudoxanthoma elasticum (PXE) in two women with distinctive skin lesions and nephrocalcinosis that renal ultrasonography showed a characteristic pattern of dotted increased echogenicity in the cort...
متن کاملPseudoxanthoma Elasticum: A Report of Three Cases in a Family
Pseudoxanthoma Elasticum is an inherited disorder characterized by generalized fragmentation and progressive calcification of the elastic tissues in the dermis, blood vessels and Bruch’s membrane of the eye. Herein, we report 3 patients in a family with pseudoxanthoma elasticum: a father and his two sons.
متن کاملEarly and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.
A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency...
متن کاملAcute aortic valvular regurgitation secondary to avulsion of aortic valve commissure in a patient with pseudoxanthoma elasticum.
A 68-year-old woman developed acute pulmonary edema due to severe acute aortic valvular regurgitation. At the time of emergency surgery, it turned out to result from spontaneous avulsion of the aortic valve commissure. Later, the patient was diagnosed to have pseudoxanthoma elasticum based on typical skin lesions. Connective tissue abnormalities associated with pseudoxanthoma elasticum might ha...
متن کاملSuccessful long-term management of choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: a case report
INTRODUCTION We describe the long-term effectiveness and tolerability of intravitreal vascular endothelial growth factor inhibitor ranibizumab in a patient with pseudoxanthoma elasticum with bilateral macular choroidal neovascularization secondary to angioid streaks. CASE PRESENTATION A 54-year-old Caucasian man with history of heart disease presented with visual loss in his right eye. An exa...
متن کامل