Diseases of collagen and elastic tissue

Published on Jan 1, 2012
· DOI :10.1016/b978-1-4160-5649-2.00021-4
Wei Lien Wang27
Estimated H-index: 27
Alexander Lazar1
Estimated H-index: 1
  • References (921)
  • Citations (3)
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1 Author (Braun P)
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The molecular mechanisms that cause physiological aging are still not completely understood, most likely because of the complex nature of the aging process. Recent discoveries on segmental progeroid syndromes emphasize the importance of studying rare diseases to discover more common mechanisms. Since the identification of mutations in the LMNA gene that causes the segmental progeroid syndrome, Hutchinson-Gilford progeria syndrome (HGPS), there has been an increasing interest in the potential rol...
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Summary Mid-dermal elastolysis is an unusual process characterized by the absence of the elastic fibres within the mid-dermis. The disappearance of these fibres causes fine wrinkles (type 1) or perifollicular protrusions (type 2) affecting the trunk, neck and arms. There is a female predilection, and most patients have a history of intense sun exposure. Recently, some cases of mid-dermal elastolysis presenting as reticular erythema have been reported. We report a case of reticular erythema with ...
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Infrared A (IRA) radiation (760–1440nm) is a major component of solar radiation and, similar to UVR, causes photoaging of human skin by increasing the expression of matrix metalloproteinase-1 in human skin fibroblasts. In this study, we assessed the IRA-induced transcriptome in primary human skin fibroblasts. Microarray analysis revealed 599 IRA-regulated transcripts. The IRA-induced transcriptome differed from changes known to be induced by UV. IRA-responsive genes include the categories extrac...
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#1Qiujie Jiang (Thomas Jefferson University)H-Index: 23
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Last. Jouni Uitto (Thomas Jefferson University)H-Index: 97
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The pathologic hallmark of pseudoxanthoma elasticum (PXE) is ectopic mineralization of soft connective tissues. Recent studies have suggested that PXE is a metabolic disease, and perturbations in a number of circulatory factors have been postulated. One of them is fetuin-A, a 60-kDa glycoprotein synthesized in the liver and secreted into blood. Observations in targeted mutant mice ( Ahsg −/− ) and in cell culture model systems have shown that fetuin-A is a powerful anti-mineralization factor in ...
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Tuberous sclerosis is a multisystem disorder characterised by the formation of hamartomas in various parts of the body. We present a patient who presented with facial angiofibromas (adenoma sebaceum), shagreen patches, and epileptic seizures. Oral papules showed histological features of angiofibroma, which was peculiar to this case.
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#1Takuro Furusawa (UTokyo: University of Tokyo)H-Index: 15
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Last. Jun Ohashi (University of Tsukuba)H-Index: 45
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Various Pacific Island populations have experienced a marked increase in the prevalence of obesity in past decades. This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI ≥ 30) in Pacific Islanders. A total of 745 Austronesian (AN)-speaking participants we...
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Werner syndrome protein (WRN) is one of a family of five human RecQ helicases implicated in the maintenance of genome stability. The conserved RecQ family also includes RecQ1, Bloom syndrome protein (BLM), RecQ4, and RecQ5 in humans, as well as Sgs1 in Saccharomyces cerevisiae, Rqh1 in Schizosaccharomyces pombe, and homologs in Caenorhabditis elegans, Xenopus laevis, and Drosophila melanogaster. Defects in three of the RecQ helicases, RecQ4, BLM, and WRN, cause human pathologies linked with canc...
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Werner’s syndrome (WS) is an autosomal recessive disorder characterized by premature aging. The main features of the disease are scleroderma-like skin appearance, premature atherosclerosis, short stature, diabetes mellitus, early osteoporosis and early aging. Herein, we describe a patient with WS, who has scleroderma-like skin changes and discuss the literature about WS as a disease in the differential diagnosis of systemic sclerosis.
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Hypermobility type Ehlers–Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers–Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoske...
104 CitationsSource
#1Jouni Uitto (Thomas Jefferson University)H-Index: 97
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Last. Qiujie Jiang (Thomas Jefferson University)H-Index: 23
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Pseudoxanthoma elasticum (PXE), a prototypic heritable disorder with ectopic mineralization, manifests with characteristic skin findings, ocular involvement and cardiovascular problems, with considerable morbidity and mortality. The classic forms of PXE are due to loss-of-function mutations in the ABCC6 gene, which encodes ABCC6, a transmembrane efflux transporter expressed primarily in the liver. Several lines of evidence suggest that PXE is a primary metabolic disorder, which in the absence of...
106 CitationsSource
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Endobronchial obstruction is a known cause of an unexpandable lung. Endobronchial lesions are usually malignant, however benign cause like hemartoma, lipoma, amyloidosis and neuroendocrine tumors are known. We, hereby present the rare cause of bronchial elastosis presenting as right lower lobe lung collapse.
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First reported in 1928, Buschke-Ollendorff syndrome (BOS) is an autosomal dominant genodermatosis with high penetrance and variable expressivity. It is characterized by skin-colored or yellow smooth papules, plaques, and nodules up to 2 cm consisting of elastomas or collagenomas, known as dermatofibrosis lenticularis disseminata.1 This syndrome also has nearly pathognomonic radiographic findings of 1- to 10-mm spherical, radiopaque osteosclerotic foci with uneven contours at the epiphysis and me...
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#2Jeffrey C. CrosbieH-Index: 12
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Objectives: Microbeam radiotherapy (MRT) with wafers of microscopically narrow, synchrotron generated X-rays is being used for pre-clinical cancer trials in animal models. It has been shown that high dose MRT can be effective at destroying tumours in animal models, while causing unexpectedly little damage to normal tissue. The aim of this study was to use a dermatopathological scoring system to quantify and compare the acute biological response of normal mouse skin with microplanar and broad-bea...
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