نتایج جستجو برای: pseudoxanthoma elasticum
تعداد نتایج: 610 فیلتر نتایج به سال:
Background and aimsPseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results calcification skin, peripheral arteries eyes, but has considerable phenotypic variability. We investigated association between genotype clinical phenotypes these different organs.MethodsABCC6 sequencing was performed 289 PXE patients. Genotypes were grouped as two truncating, mixed, or non-trun...
Introduction Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of the connective tissue. Up to 1964, approximately 400 cases had been reported (Suerig and Siefert, 1964). The lesion involves mainly the skin, the eyes and the cardiovascular system, giving rise to diverse clinical manifestations. Most of the reports have highlighted the association of cutaneous changes with angioid stre...
We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected skin showed strong alterations in the mid-dermis with irregular clumps of eosinophilic material and loss of the ...
BACKGROUND There have been isolated case reports of arterial and skin calcification in mammograms of patients with pseudoxanthoma elasticum (PXE), and unpublished anecdotes of many women with PXE undergoing breast biopsy for evaluation of microcalcifications. OBJECTIVE Our aim was to systematically evaluate mammography and breast pathology in PXE. METHODS The mammograms of 51 women with con...
BACKGROUND Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder. METHODS In a cross-secti...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید