The molecular genetics of the Ehlers-Danlos syndrome

Np, Burrows

doi:10.1046/j.1365-2230.1999.00427.x

Cited by 63 publications

(44 citation statements)

References 34 publications

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“…Sie wird, entsprechend ihrer klinischen Ausprägung, ihres Vererbungsmusters, bzw. der Form des zugrundeliegenden genetischen Defektes in neun Subtypen unterteilt (Burrows 1999). Bei den als klassisch bezeichneten Formen des E-D S (Typ I und II) wird klinisch eine sehr weiche, dünne, überdehnbare und brüchige Haut, sowie gelegentlich eine Gelenkinstabilität, vorwiegend im Bereich der Hände und Füße, beobachtet (Burrows 1999).…”

Section: Introductionunclassified

“…Bei den als klassisch bezeichneten Formen des E-D S (Typ I und II) wird klinisch eine sehr weiche, dünne, überdehnbare und brüchige Haut, sowie gelegentlich eine Gelenkinstabilität, vorwiegend im Bereich der Hände und Füße, beobachtet (Burrows 1999). In selteneren Fällen werden auch Verän-derungen im Bereich der Gefäße (E-D S Typ IV) beschrieben (Burrows 1999).…”

Section: Introductionunclassified

“…noch unbekannten, die Kollagensynthese hemmenden Enzymdefekten, welche zu einer irregulären Synthese, Strukturanordnung und/oder Integration der Kollagenfasern im Gewebe führen (Burrows 1996(Burrows , 1999.…”

Section: Introductionunclassified

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A connective tissue disease of the skin in a foal similiar to the human Ehlers-Danlos Syndrome

Winter¹,

Börgel²,

Aupperle³

et al. 2004

PHK

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ZusammenfassungBeim Ehlers-Danlos Syndrom (E-D S) des Menschen handelt es sich um eine hereditäre Erkrankung des kollagenen Bindegewebes der Haut, welche in vergleichbarer Weise auch bei Tieren beschrieben wird. Von einem sechs Tage alten Oldenburger Stutfohlen mit den klinischen Symptomen einer dermalen Hyperelastizität und -fragilität wurden Gewebeproben der äußeren Haut und Unterhaut histologisch, immunhistologisch und elektronenmikroskopisch untersucht. Lichtmikroskopisch wurde in der Dermis eine irreguläre Anordnung der kollagenen Bindegewebsfasern in Form subepidermaler "Faserplaques" und subkutaner "Faserstränge" nachgewiesen. Im polarisierten Licht der Pikrosiriusrot-Färbung zeigten die "Faserplaques" einen erhöhten Anteil kollagener Fasern des Typs I und die "Faserstränge" einen erhöhten Anteil von Kollagenfasern des Typs III. Mittels Elektronenmikroskopie konnten neben einzelnen regulären Kollagenfibrillen (Durchmesser ca. 140 nm) irreguläre, fragmentierte "Fibrillenplaques" (Größe ca. 240x350 nm) und schlankere "Fibrillenstränge" (Durchmesser variierend zw. 90 und 180 nm) nachgewiesen werden. Darüber hinaus waren im Bereich einzelner größerer subkutaner Venen z.T. hochgradige Panelastofibrosen erkennbar, die einen erhöhten Anteil Kollagenfasern des Typs III aufwiesen. Die erhobenen Befunde lassen den Schluss zu, dass es sich bei dem vorliegenden Fall um eine "E-D S ähnliche kutane Bindegewebserkrankung" bei einem Fohlen handelt.Schlüsselwörter: Ehlers-Danlos Syndrom, Pferd, Hyperfragilität, Kollagenfasern, Haut A connective tissue disease of the skin in a foal similiar to the human Ehlers-Danlos SyndromeThe Ehlers-Danlos syndrome (E-D S) in man is an inherited disease of collagen connective tissue of the skin which is also described in animals. Skin biopsies of a six days old female Oldenburger foal with the clinical signs of fragile and hyperextensive skin were investigated by the use of light microscopical, immunohistochemical and ultrastructural techniques. The results of histopathology revealed an irregular structure of collagen fibres which showed subepidermal fragmented "fibre plaques" and subcutaneous slender "fibre cords". In the polarisation light of the picrosirius-red-stain the "fibre plaques" represented an increased amount of collagen type I while the "fibre cords" showed an increased amount of collagen type III. Electronmicroscopic examination showed some normal sized fibrilles (approx. 140 nm in diameter) and also irregular fragmented "fibrillar plaques" (size: 240x350 nm) and slender "fibrillar cords" (varying from 90 to 180 nm in diameter). In the area of numerous subcutaneous veins a severe panelastofibrosis, containing an increased amount of collagen type III, was present. In the light of the present results, it has been concluded, that this case is an example of a rare, probably idiopathic "E-D S like disease" in a foal.

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Section: Introductionunclassified

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A connective tissue disease of the skin in a foal similiar to the human Ehlers-Danlos Syndrome

Winter¹,

Börgel²,

Aupperle³

et al. 2004

PHK

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“…In particular, type IV EDS, also known as vascular EDS, is associated with a high incidence of vascular damage 14) . Patients with EDS type IV can have the following distinctive features; a long thin nose, sunken cheeks, bulging or protruding eyes, thin lips 14) , translucent skin 5) , a tendency to bruise easily, and delayed wound healing 7) . The arteries of these patients are extremely friable, and they can develop multiple aneurysms and spontaneous arterial rupture and dissection 13) .…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis of this syndrome is based mainly on the above four clinical features, but definitive diagnosis is made based on skin biopsy and skin fibroblast culture findings, the latter of which show mutations within the triple-helical coding region of COL3A1 (the collagen III gene). Glycine substitutions and axon skips are the most common mutations and sometimes deletions are encountered 5) . Coils and covered stent are used to treat vertebral dissecting aneurysms 11) .…”

Section: Discussionmentioning

confidence: 99%

Fusiform Aneurysm Presenting with Cervical Radiculopathy in Ehlers-Danlos Syndrome

Kim

Choi

Lee

et al. 2010

J Korean Neurosurg Soc

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J Korean Neurosurg Soc 48 : [528][529][530][531] 2010 Ehlers-Danlos syndrome (EDS) type IV is characterized by its clinical manifestations, which are easy bruising, thin skin with visible veins, and rupture of arteries, uterus, or intestines. Arterial complications are the leading cause of death in vascular EDS because they are unpredictable and surgical repair is difficult due to tissue fragility. The authors report a case presented with cervical radiculopathy due to a segmental fusiform aneurysm of the cervical vertebral artery. Transfemoral cerebral angiography (TFCA) was done to verify the aneurysmal dilatation. However, during TFCA, bleeding at the puncture site was not controlled, skin and underlying muscle was disrupted and profound bleeding occurred during manual compression after femoral catheter removal. Accordingly, surgical repair of the injured femoral artery was performed. At this time it was possible to diagnose it as an EDS with fusiform aneurysm on cervical vertebral artery. Particularly, cervical fusiform aneurysm is rare condition, and therefore, connective tissue disorder must be considered in such cases. If connective tissue disorder is suspected, the authors suggest that a noninvasive imaging modality, such as, high quality computed tomography angiography, be used to evaluate the vascular lesion to avoid potential arterial complications.

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Picture of the Month—Quiz Case

Aj²,

Sharma³

2006

Arch Pediatr Adolesc Med

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9-YEAR-OLD AFRICAN AMERICAN GIRL WAS seen in the dermatology clinic for evaluation of a lifelong history of easy bruising and scarring of the skin. She had an unremarkable medical history except for hypertension. On further discussion, she also had a history of increased flexibility of her joints but no history of joint dislocations, cardiac abnormalities, or ocular problems. There was no family history of any similar medical conditions. On

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The molecular genetics of the Ehlers-Danlos syndrome

Cited by 63 publications

References 34 publications

A connective tissue disease of the skin in a foal similiar to the human Ehlers-Danlos Syndrome

A connective tissue disease of the skin in a foal similiar to the human Ehlers-Danlos Syndrome

Fusiform Aneurysm Presenting with Cervical Radiculopathy in Ehlers-Danlos Syndrome

Picture of the Month—Quiz Case

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