An autopsy case of pseudoxanthoma elasticum: histochemical characteristics

Miki, Katsuaki; Yuri, Takashi; Takeda, Nobuhiko; Takehana, Kazuya; Iwasaka, Toshiji; Tsubura, Airo

doi:10.1007/s00795-007-0368-5

Cited by 35 publications

(33 citation statements)

References 19 publications

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“…PXE has at least two dominant and two recessive inheritance patterns (3,4). However, the majority of PXE cases are sporadic as shown here (5,14) The present case fits all of the main diagnostic criteria of PXE including characteristic skin lesions exhibiting typical histopathological manifestation and characteristic ocular change as defined by the Consensus Conference of Philadelphia in 1992 14 as category I PXE.…”

Section: Discussionsupporting

confidence: 66%

“…The abnormalities of both of these fibers are suggested to be responsible for the laxity of the skin in the affected areas (6). The frequency of PXE is not precisely known because of delayed diagnosis, variable manifestations, and its mostly symptom-free condition (3,6). Its estimated prevalence is 1:25 000-100 000 with an almost 2:1 female preponderance (7,8).…”

Section: Introductionmentioning

confidence: 99%

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Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Borahan¹,

Ağralı²,

Kuru³

et al. 2014

MUSBED

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Pseudoksantoma elastikumda kök agenezisinin klinik, histolojik ve radyolojik olarak incelenmesi Amaç: Psödoksantoma elastikum (PXE) deri, retina ve kardiyovasküler sistemde elastik liflerin ilerleyen kalsifikasyon ve parçalanması ile karakterize, nadir görülen genetik bir hastalıktır. PXE 'nin oftalmik ve dermatolojik belirtileri ve vasküler komplikasyonları heterojendir. Sistemik düzensizliklerin yanı sıra, bir dizi belirtiler bildirilmiştir. Bu olgu raporunun amacı PXE olan bir hastada görülen kök agenezisi sunmaktır. Vaka Sunumu: PXE tanısı konmuş 22 yaşındaki bayan hasta maloklüzyonu ve estetik şikayet nedenleriyle Marmara Üniversitesi, Diş Hekimliği Fakültesi'ne başvurmuştur. Klinik muayeneye ek olarak, panoramik radyografi ve konik ışınlı bilgisayarlı tomografide kök agenezi görüntülenmiştir. Tedavi planını mekanik periodontal tedavi ve kısa aralıklarla klinik takibi oluşturmuştur. Sonuç: Radyolojik muayene, dental ve mukozal anomaliler için yararlı ve önemlidir. Sonuç olarak, bu çalışma klinisyenler tarafından dikkate alınması gereken PXE ile birlite kök agenezisi görülen bir hastanın sunumudur. Anahtar sözcükler: Psödoksantoma elastikum, kök agenezi, konik ışınlı bilgisayarlı tomografi ABS TRACT Clinical, histological and radiological presentation of root agenesis in pseudoxanthoma elasticumObjectives: Pseudoxanthoma elasticum (PXE) is a rare, genetic disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina and cardiovascular system. The ophthalmic and dermatologic expressions of PXE and vascular complications are heterogeneous. In addition to systemic disorders, a number of manifestations have been reported. The aim of this case report is to present, for the first time, root agenesis in a patient with PXE. Case Report: A 22-year-old girl diagnosed with PXE was referred to the Faculty of Dentistry, Marmara University, with a chief complaint of malocclusion and unaesthetic appearance. In addition to clinical examination, the patient was imaged using panoramic radiography and cone-beam computed tomography, which revealed root agenesis. Treatment plan consisted of mechanical periodontal therapy and recall visits with short intervals. Conclusion: Radiologic examination is useful and important for dental and mucosal abnormalities. In conclusion, this is the first report of a patient with root agenesis coexisting with PXE which should be taken into account by clinicians.

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Section: Discussionsupporting

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Borahan¹,

Ağralı²,

Kuru³

et al. 2014

MUSBED

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“…To the best of our knowledge only 1 previous study on LV function in patients with PXE is available, reporting similar findings with significantly lower E m and higher E/E m ratio; data on deceleration time were lacking. 28 Although the exact underlying pathophysiology of diastolic dysfunction in PXE is not well understood, some mechanisms have been proposed, including (1) intrinsic histological alterations [22][23][24] and (2) myocardial ischemia caused by premature CAD and altered myocardial microcirculation. [5][6][7][8]12 The first hypothesis postulates that elastic fiber alterations of myocardial tissue of PXE subjects could cause changes in passive elastic properties of the myocardium with impairment of LV relaxation.…”

Section: Diastolic Dysfunctionmentioning

confidence: 99%

“…[20][21][22] This study focuses on the cardiovascular phenotype of patients with PXE and carriers. Cardiovascular changes in patients with PXE are characterized by (1) mineralization and fragmentation of elastic fibers of the internal elastic lamina, medial and adventitial layers of medium-sized arteries and aorta, as well as of the endocardium, pericardium, connective tissue around vessels in the myocardium and vascular structures of the heart such as intramyocardial arterioles and epicardial coronary arteries 9,[22][23][24][25] ; (2) high prevalence of atherosclerotic plaques 3,26 ; and (3) accumulation of proteoglycans in the arterial media. 9 As a result of these changes, vascular complications such as peripheral artery disease (PAD), coronary artery disease (CAD), stroke (predominantly resulting from ischemic cerebral small vessel disease), and gastrointestinal hemorrhage can occur.…”

mentioning

confidence: 99%

Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families

Campens

Vanakker

Trachet

et al. 2013

ATVB

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Objective-Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder with involvement of the skin, the retina, and the cardiovascular system. Cardiovascular involvement is mainly characterized by mineralization and fragmentation of elastic fibers of blood vessels and premature atherosclerosis. We conducted an ultrasound study to investigate the cardiovascular phenotype and to propose recommendations for the management of patients with PXE and heterozygous ABCC6 mutation carriers. Approach and Results-Thirty-two patients, 23 carriers, and 28 healthy volunteers underwent cardiac and vascular ultrasound studies. Cardiac imaging revealed left ventricular diastolic dysfunction in patients with PXE with a significantly prolonged deceleration time and lower septal early diastolic velocities of the mitral annulus compared with controls. Carriers also demonstrated significantly prolonged deceleration time. Carotid-to-femoral pulse wave velocity was significantly increased in patients with PXE when compared with carriers and controls. Vascular imaging revealed a high prevalence of peripheral artery disease in both patients and carriers and a significantly higher carotid intima-media thickness compared with controls. Conclusions-The results of this study clearly demonstrate impaired left ventricular diastolic function, impairment of the elastic properties of the aorta, and a high prevalence of peripheral artery disease in patients with PXE. Carriers also seem to exhibit a cardiovascular phenotype with mainly mild diastolic dysfunction and accelerated atherosclerosis. Increased awareness for cardiovascular events in both patients and heterozygous carriers is warranted. The ABCC6 gene (chrom. 16p13.1) codes for an ATPdependent transmembrane transporter, which is most abundant in the liver and kidney. Remarkably, the expression of the ABCC6 transporter in tissues clinically affected by PXE is very low. 19 This observation led to the hypothesis that PXE is primarily a metabolic disorder in which circulating serum factor(s) plays a role. 17 Another, and probably complimentary, pathogenetic mechanism is the so-called cellular hypothesis in which fibroblast perturbation may evoke local mineralization and elastic fiber alterations. This hypothesis is based on the observation that elastic fiber alterations are not present homogeneously throughout the skin and blood vessels of patients with PXE, but only in peculiar regions. Moreover, PXE skin fibroblasts exhibit a distinct behavior with altered biosynthetic expression profile and cell-cell and cell-matrix interactions compared with fibroblasts from normal subjects. [20][21][22] This study focuses on the cardiovascular phenotype of patients with PXE and carriers. Cardiovascular changes in patients with PXE are characterized by (1) mineralization and fragmentation of elastic fibers of the internal elastic lamina, medial and adventitial layers of medium-sized arteries and aorta, as well as of the endocardium, pericardium, connective tissue around vessels in t...

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“…Pseudoxanthoma elasticum causes a severe failure of elastic fiber homeostasis, but patients do not typically show aneurysm. Examination of arterial tissue from patients with PXE shows elastic fiber fragmentation and disarray (Miki et al 2007). Similar histopathology is seen in aortic root aneurysms in MFS caused by mutations in FBN1 encoding fibrillin-1 (Dietz et al 1991).…”

mentioning

confidence: 99%

The Genetic Basis of Aortic Aneurysm

Lindsay

Dietz

2014

Cold Spring Harbor Perspectives in Medicine

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Gene identification in human aortic aneurysm conditions is proceeding at a rapid pace and the integration of pathogenesis-based management strategies in clinical practice is an emerging reality. Human genetic alterations causing aneurysm involve diverse gene products including constituents of the extracellular matrix, cell surface receptors, intracellular signaling molecules, and elements of the contractile cytoskeleton. Animal modeling experiments and human genetic discoveries have extensively implicated the transforming growth factor-b (TGF-b) cytokine-signaling cascade in aneurysm progression, but mechanistic links between many gene products remain obscure. This chapter will integrate human genetic alterations associated with aortic aneurysm with current basic research findings in an attempt to form a reconciling if not unifying model for hereditary aortic aneurysm.A mong the myriad blood vessels within the body, the large capacitance arteries adjacent to the heart are unique in structure, function, and in their capacity for derangement in disease states. The clear enrichment of involvement of the proximal ascending thoracic aorta, and more specifically the sinuses of Valsalva, in inherited forms of thoracic aortic aneurysm (TAA) has been historically attributed to the unique functional demands and hemodynamic environment of this aortic segment. The aorta is a relatively unique organ in that its critical functional components are located in the extracellular space, whereas the cellular components of the aorta may act primarily to support the development and homeostasis of the supporting matrix. Cardiovascular surgeons show this interesting biology in common surgical practice. Large aortic segments are routinely replaced entirely with synthetic materials such as Dacron, demonstrating the dispensability of aortic cellular components for minimal critical function (to serve as a conduit and distribution network for blood flow). Despite its seemingly simple nature, the aorta has evolved into a complex organ with spatial variation in structure. During cardiac systole, the proximal ascending aorta has the ability to accept pressure and volume loads (capacitance) and to transmit them distally during diastole through recoil (elastance) with the least loss of energy. These requirements are reflected by variation in the major compoEditors:

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An autopsy case of pseudoxanthoma elasticum: histochemical characteristics

Cited by 35 publications

References 19 publications

Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Clinical, Histological and Radiological Presentation of Root Agenesis in Pseudoxanthoma Elasticum

Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families

The Genetic Basis of Aortic Aneurysm

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