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Results for “Pseudoxanthoma Elasticum”

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At least 19 recordsLinked to original sources
PubMed1989

Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is a rare inherited connective tissue disorder, which exhibits genetic heterogeneity. It is characterized by elastic tissue degeneration involving many organ systems, with typical cutaneous, ocular, arterial, and gastrointestinal manifestations. Upper gastrointestinal tract hemorrhage occurs in 13% of patients with pseudoxanthoma elasticum and is often resistant to conventional methods of treatment. A case report involving gastric hemorrhage in a patient with pseudoxanthoma elasticum is presented. The characteristics of pseudoxanthoma elasticum are reviewed, and the management of upper gastrointestinal tract hemorrhage in these patients is discussed.

Adult↗
PubMedDate not supplied

Calcification of elastic fibers in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is an inherited disorder of connective tissue that is characterized by calcification of elastic fibers with associated abnormalities of the skin, ocular, and cardiovascular systems. The genetic defect causing pseudoxanthoma elasticum has not been determined and the diagnosis relies on clinical recognition of skin lesions and histologic demonstration of calcification of elastic fibers that are clumped and fragmented in the dermis. The role of connective tissue components in the etiology of pseudoxanthoma elasticum is reviewed and includes changes in collagen, elastin, glycosaminoglycans, fibronectin, microfibrillar proteins, modifying enzymes of extracellular matrix proteins, fibroblasts, and fibrillins.

Elastin↗
PubMed2006

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is caused by mutations of the ABCC6 gene. We hereby report a case of pseudoxanthoma elasticum with clinical features dominated by early coronary involvement in addition to typical skin and ocular abnormalities. A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.

Adolescent↗
PubMed2006

Left ventricular systolic and diastolic function by echocardiogram in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is an inherited systemic disease of connective tissue with possible cardiac involvement. Nineteen patients with pseudoxanthoma elasticum without a history of cardiac disease were investigated by echocardiography using standard measurements and tissue Doppler imaging. Systolic function was normal, but diastolic parameters were abnormal in 7 patients. Explanations for these abnormalities could be silent myocardial ischemia due to early coronary involvement and/or the direct consequences of ultrastructural defects of the elastic tissue of the heart.

Diastole↗
PubMed1989

An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is a rare hereditary disorder of elastic tissue with central nervous system manifestations due to occlusive vascular disease and aneurysm formation. Here we report the first recorded case of an intracranial arteriovenous malformation (AVM) in a patient with pseudoxanthoma elasticum. The AVM, which was located in the pons, also had an unusual manifestation, namely palatal myoclonus.

Adult↗
PubMed1996

[Familial pseudoxanthoma elasticum].

Pseudoxanthoma elasticum is a genodermatosis caused by a change in elastic fibers but with a non well defined biochemical correlate. Its prognosis depends upon the degree of visceral involvement. The appearance of cutaneous lesions allows an early diagnosis. We report here three sisters aged 23, 21, and 19 years with pseudoxanthoma elasticum who had typical cutaneous and retinal lesions. The clinical diagnosis was confirmed by a cutaneous biopsy. To note the high diagnostic yield and minimal morbidity of the cutaneous biopsy for diagnosing this disease.

Adult↗
PubMed2001

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue, characterized by progressive calcification of the elastic fibers in the eye, the skin, and the cardiovascular system. The PXE locus has been mapped to chromosome 16p13.1, and was recently further refined to a 500 kb-region, containing four candidate genes : MRP1 (ABCC1), MRP6 (ABCC6), pM5, and two copies of an unknown gene, the later we subsequently found to be identical to the gene encoding the Nuclear Pore Interacting Protein (NPIP). In a comprehensive mutational screening, we have analysed the entire coding region of the pM5, MRP1, and NPIP genes in 7 patients affected with pseudoxanthoma elasticum, but failed to find evidence of disease-causing defects in any of these three genes. Five synonymous (G232G, P395P, A862A, G912G, D1106D), and five non synonymous (V404I, N458K, D490N, F1141I, G1195R) polymorphisms were found in the pM5 gene, for which we also corrected errors in the published cDNA sequence. Analysis of the MRP1 transcript lead to the discovery of two polymorphisms (T117M, S1512L). No variant was evidenced during our screening of the NPIP gene. Our data exclude the responsibility of the pM5, MRP1 and NPIP genes in PXE, and strongly suggest that mutations in the last remaining candidate gene, MRP6, which encodes a 1503 amino-acid ABC membrane transporter, are the genetic defect responsible for PXE.

ATP-Binding Cassette Transporters↗
PubMed2001

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is an inherited disorder of the elastic tissue with characteristic progressive calcification of elastic fibers in skin, eye, and the cardiovascular system. Recently mutations in the ABCC6 gene, encoding a transmembrane transporter protein, were identified as cause of the disease. Surprisingly, sequence and RFLP analysis for exon 9 with primers corresponding to flanking intronic sequence in diseased and haplotype negative members from all of our families and in a control population revealed either a homozygous or heterozygous state for the Q378X (1132C-->T) nonsense mutation in all individuals. With the publication of the genomic structure of the PXE locus we had identified the starting point of a large genomic segmental duplication within the locus in the cytogenetic interval defined by the Cy19 and Cy185 somatic cell hybrid breakpoints on chromosome 16p13.1. By means of somatic cell hybrid mapping we located this starting point telomeric to exon 10 of ABCC6. The duplication, however, does not include exon 10, but exons 1-9. These findings suggest that one or several copies of an ABCC6 pseudogene (psiABCC6) lie within this large segmental duplication. At least one copy contains exons 1-9 and maps to the chromosomal interval defined by the Cy163 and Cy11 breakpoints. Either this copy and/or an additional copy of psiABCC6 within Cy19-Cy183 carries the Q378X mutation that masks the correct identification of this nonsense mutation as being causative in pseudoxanthoma elasticum. Long-range PCR of exon 9 starting from sequence outside the genomic replication circumvents interference from the psiABCC6 DNA sequences and demonstrates that the Q378X mutation in the ABCC6 gene is associated with PXE in some families. These findings lead us to propose that gene conversion mechanisms from psiABCC6 to ABCC6 play a functional role in mutations causing PXE.

Alleles↗
PubMed1978

Pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a genetic disorder of connective tissue with multi-systemic manifestations. Although the skin changes are striking, the eye and cardiovascular lesions can be most devastating to the patient. A review of the clinical and pathologic findings and recent therapeutic approaches is presented. Recent investigations on the pathogenesis and genetics of PXE are also discussed.

Cardiovascular Diseases↗
PubMed2002

Pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP-binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still unknown now mutations in the ABCCC6 gene can lead to manifestations of PXE.

Humans↗
PubMed1993

Rheumatoid arthritis in a patient with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a rare, inherited disorder of the connective tissue. Possible association of autoimmune thyroiditis and PXE has been suggested, but reports of other autoimmune diseases complicating PXE are rare. We report a case of rheumatoid arthritis (RA) in a patient with PXE. Since the frequency of PXE is likely to be underdiagnosed, further studies to elucidate the true incidence and significance of the association of RA and PXE will be needed.

Adult↗
PubMed1998

Atrial septal aneurysm in a patient with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a rare heritable disorder of the connective tissue characterized by marked clinical heterogeneity. Common cardiovascular complications of PXE include renovascular hypertension, premature coronary artery disease and calcification of peripheral arteries frequently leading to claudicatio intermittens; fibrous thickening of the endocardium and atrioventricular valves, leading to restrictive cardiomyopathy and/or mitral valve prolapse have been also described. We herein report on a PXE patient who developed an atrial septal aneurysm as a previously undescribed cardiologic manifestation of her disease.

Adult↗
PubMed1992

Sonographic detection of renal changes in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a rare hereditary disease whose basic abnormality is degeneration of elastic tissue, with calcification of the tonaca media of the arteries, and typical yellowish papules of the skin. We report the sonographic findings observed in a young patient with PXE at the level of the kidneys: fine hyperechogenic spots suggesting small calcifications were diffuse at the corticomedullary junction; however, normal waveforms were obtained at the level of intraparenchymal renal vessels. The presence of this structural pattern in a young patient with dermatologic abnormalities should lead to the consideration of PXE in the differential diagnosis list.

Adult↗
PubMed2005

Pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable phenotypic variability. The skin changes are usually apparent in adulthood, and rarely observed in childhood. Since the prognosis of PXE largely depends on the extent of extracutaneous organ involvement early recognition, intervention and lifestyle adjustments are important to reduce morbidity. First-degree family members should be carefully examined for any cutaneous or ophthalmologic features of PXE.

Cardiovascular Diseases↗
PubMed2000

Osteoma cutis coexisting with cutis laxa-like pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a heritable disorder of elastic fibers characterized by yellowish, coalescing papules on the loose and wrinkled flexural area. There have been no reports of osteoma cutis associated with PXE. A 17-year-old Korean girl presented cutis laxa-like marked wrinkling on the flexural area, and a skin biopsy specimen revealed multiple foci of ossification with irregularly clumped, basophilic-stained elastic fibers in the reticular dermis and calcium deposits along the elastic fibers. Ultrasonographic evaluation showed multiple tiny osteomas diffusely scattered along the entire abdominal wall, axillae, and medial aspect of the upper arms. We report the first case of osteoma cutis coexisting with cutis laxa-like PXE.

Adolescent↗
PubMed2004

Long-term left internal mammary artery graft patency for coronary artery disease associated with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is a rare, inherited connective tissue disorder with numerous systemic manifestations that include premature coronary artery disease. Coronary artery bypass grafting (CABG) is known to be beneficial in patients with PXE-related coronary artery disease. In these patients, however, the suitability of arterial conduits, including the internal mammary artery, has been controversial. We present a patient with PXE-related coronary artery disease who has had long-term patency of a left internal mammary artery (LIMA) graft after an off-pump CABG procedure in which LIMA and bilateral radial artery conduits were used.

Aged↗
PubMed2004

Intravascular ultrasound findings of coronary wall morphology in a patient with pseudoxanthoma elasticum.

Pseudoxanthoma elasticum (PXE) is an inherited disorder characterised by progressive calcification of the elastic fibres in the skin, eye, and cardiovascular system. Recently, mutations in the ATP binding cassette transporter gene (ABCC6) were identified as cause of this disease. Although patients with PXE often have coronary artery disease, little is known about the process and the mechanism of coronary artery disease in PXE. In this report, intravascular ultrasound (IVUS) imaging was performed in a female patient with PXE seven years after the onset of skin lesion to assess the coronary wall morphology in detail. IVUS showed a unique five layer appearance without acoustic shadowing along the vessel wall observed in the angiographically normal portion. These findings may reflect the earlier stage of coronary artery disease caused by PXE before calcification of the internal elastic laminae.

Angioid Streaks↗