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Cases reported "Pseudoxanthoma Elasticum"
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1/44. 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.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
2/44. Preclinical diagnosis of pseudoxanthoma elasticum - methodological restrictions and ethical problems.pseudoxanthoma elasticum (PXE) is an inherited connective tissue disease. Only recently, mutations in the MRP6 gene on chromosome 16p13.1 have been identified in PXE families. Up to now, predictive testing has not been available. Since ultrastructural connective tissue alterations in overtly normal skin of predilection sites have supported preclinical diagnosis in children of affected individuals, we have screened the daughters of a PXE patient for these alterations. The patient's biopsy from lesional skin revealed elastin and collagen fibril abnormalities, but biopsies from the clinically inconspicuous daughters showed only ultrastructural alterations of collagen fibrils. These findings are inconclusive regarding the diagnosis of PXE in the daughters. Predictive or preclinical diagnosis of incurable, late-onset disorders creates complex social, ethical, and legal problems which call for special management strategies.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
3/44. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.pseudoxanthoma elasticum (PXE) is a systemic heritable disorder affecting the elastic structures in the skin, eyes, and cardiovascular system, with considerable morbidity and mortality. Recently, mutations in the ABCC6 gene (also referred to as "MRP6" or "eMOAT") encoding multidrug-resistance protein 6 (MRP6), a putative transmembrane ABC transporter protein of unknown function, have been disclosed. Most of the genetic lesions delineated thus far consist of single-base-pair substitutions resulting in nonsense, missense, or splice-site mutations. In this study, we examined four multiplex families with PXE inherited in an autosomal recessive pattern. In each family, the proband was a compound heterozygote for a single-base-pair-substitution mutation and a novel, approximately 16.5-kb deletion mutation spanning the site of the single-base-pair substitution in trans. The deletion mutation was shown to extend from intron 22 to intron 29, resulting in out-of-frame deletion of 1,213 nucleotides from the corresponding mRNA and causing elimination of 505 amino acids from the MRP6 polypeptide. The deletion breakpoints were precisely the same in all four families, which were of different ethnic backgrounds, and haplotype analysis by 13 microsatellite markers suggested that the deletion had occurred independently. Deletion breakpoints within introns 22 and 29 were embedded within AluSx repeat sequences, specifically in a 16-bp segment of dna, suggesting Alu-mediated homologous recombination as a mechanism.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
4/44. pseudoxanthoma elasticum and pregnancy: a case report.BACKGROUND: pseudoxanthoma elasticum (PXE) is a rare hereditary disease characterised by systemic degeneration of elastic tissue. Calcification of elastic fibres seen histologically is pathognomonic for the disorder. Most pseudoxanthoma elasticum patients show no serious complications during pregnancy. CASE: We report a case of a 29-year-old white woman with pseudoxanthoma elasticum, who delivered a healthy infant at the 35th week by cesarean section after an uneventful pregnancy. Sonographic and histological placental findings are described. CONCLUSION: pregnancy in a patient with pseudoxanthoma elasticum presents some problems such as the evolution of the disease in the soon to be mother and the influence of the disease on the pregnancy. In our case there were no fetal-maternal complications related to the disease except skin lesion aggravation.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
5/44. pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification of elastic fibers in skin, arteries, and retina. It results in dermal lesions, arterial insufficiency and retinal hemorrhages, leading to macular degeneration. PXE is transmitted either as an autosomal dominant or recessive trait and several sporadic cases have been observed. Mutations in the ABCC6 gene have been identified very recently in patients. Here, we report on a large Italian family affected by pseudoxanthoma elasticum for which linkage analysis had pointed to a region encompassing markers D16S3069-D16S405-D16S3103; hemizygosity of marker D16S405 allowed us to detect a submicroscopic deletion of at least 900 kb involving ABCC6, ABCC1, and MYH11. mutation analysis on the other allele of the family, as well as on two additional sporadic cases, revealed nonsense (Y227X, R518X, R1164X) and frame-shift (c.960delC) mutations in ABCC6 (MRP6) further confirming the role of this multi-drug resistance gene in the etiology of pseudoxanthoma elasticum. Furthermore, clinical re-examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene. In the course of the analysis five nonpathogenic variants were found in ABCC6: 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. Hum Mutat 18:85, 2001.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
6/44. Coexisting pseudo-xanthoma elasticum and rheumatoid arthritis. three cases and review of the literature.Pseudo-xanthoma elasticum (PXE) is an inherited disorder of the connective tissue characterized by cutaneous, ocular and vascular lesions. Coexisting PXE and rheumatoid arthritis (RA) is rare because three cases have only been described. We report three new cases of this association. Analysis of these six cases failed to show any particular biological or clinical features of rheumatoid arthritis associated PXE. The possible association of PXE and RA is discussed.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
7/44. pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene.pseudoxanthoma elasticum (PXE) is an inherited systemic disorder of connective tissue. We describe a patient with PXE who does not have mutations in exons 16, 24, 27, 28, and 30 of the MRP6 gene.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
8/44. pseudoxanthoma elasticum with abnormal nailfold microcirculatory findings.pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue. Here we report a 34-year-old male patient who developed multiple symptomless yellowish papules over his neck for several months. He visited our dermatologic out-patient-clinic because his sister had similar skin lesions and mild visual impairment. The pathologic features of the skin biopsy showed fragmented calcified elastic fibers in the mid-to-lower dermis under the H&E, Verhoeff-van Gieson and Von Kossa stains. Under electron microscopy, calcified degenerated elastic fibers were noted. No other internal organ involvement was found except angioid streaks on the fundus. In addition, morphological changes of the nailfold capillaries, including increased tortuosity, dilated venous limbs of capillary loops, and decreased red-blood-cell velocity, were observed under the capillaroscopy. Though former reports have indicated that cardiovascular manifestations are caused by degeneration of elastic fibers of blood vessels, this study is the first to emphasize the microcirculatory disturbance of nailfold capillary, including morphology and blood-cell velocity, in PXE.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
9/44. Acute myelocytic leukemia associated with thrombocytosis and inv 3(q21.3; q26.2) in a case of Gronbland-Strandberg syndrome.Gronbland-Strandberg syndrome is an inherited connective tissue disorder with cutaneous, ophthalmologic, and systemic manifestations. Here we report a case of AML with thrombocytosis arising in a patient with this syndrome. Karyotypic analysis of bone marrow cells revealed the inversion 3 (q21.3;q26.2). To our knowledge, this is the first report of the association of AML with thrombocytosis and Gronbland-Strandberg syndrome. This might be a coincidental association, but it suggests some interesting speculations regarding the pathogenesis of these diseases.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
10/44. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum.pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene, encoding for the membrane transporter MRP6, whose physiological role is still unknown. PXE is characterized by skin, eye, and cardiovascular alterations mainly due to mineralization of elastic fibers. The ultrastructural alterations of a large number of tissues obtained at autopsy from 2 PXE patients were analyzed and compared to clarify the involvement of the various organs in PXE and to identify cell types responsible for clinical manifestations. Ultrastructural alterations typical of PXE were present in all organs examined and consisted mostly of fragmentation and mineralization of a number of elastic fibers, abnormalities of collagen fibril shape and size, and, less frequently, deposition of aggregates of matrix constituents in the extracellular space. The severity of alterations was more pronounced in the organs affected by the clinical manifestations of PXE. Interestingly, veins and arteries were similarly damaged, the adventitia and the perivascular connective tissue being the most affected areas. Therefore, alterations in PXE are systemic and affect all soft connective tissues, even in the absence of specific clinical manifestations. The localization of alterations suggests that fibroblasts and/or smooth muscle cells are very likely involved in the pathogenesis of the disorder. These findings may help in the diagnosis of PXE when clinical manifestations affect internal organs.- - - - - - - - - - ranking = 1keywords = disorder (Clic here for more details about this article) |
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