Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome (vEDS) results from a mutation in the gene encoding alpha-1, type III pro-collagen (COL3A1) and confers fragility to skin, ligament and vascular tissue. We tested the value of skin biopsy for diagnosis of vEDS through an ultrastructure scoring procedure. Study design was a multicentric, case-control, blinded trial consisting of two phases: phase 1 was to identify an ultra-structure score providing the best discriminative value for vEDS and phase 2 was to replicate this result in a different population.

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Background: Vascular Ehlers-Danlos syndrome is a rare severe disease that causes arterial dissections and ruptures that can lead to early death. No preventive treatment has yet been validated. Our aim was to assess the ability of celiprolol, a β(1)-adrenoceptor antagonist with a β(2)-adrenoceptor agonist action, to prevent arterial dissections and ruptures in vascular Ehlers-Danlos syndrome.

Coagulation disorders in patients with venous malformation of the limbs and trunk: a case series of 118 patients.

Objective: To investigate the clinical characteristics of venous malformation of the limbs and trunk and known but poorly appraised associated coagulation disorders. Venous malformations are ubiquitous, slow-flow vascular anomalies known to be occasionally painful because of thrombotic episodes inside the lesion.

Design: Large case series, with screening of accepted standard coagulation tests.

Fibromuscular dysplasia.

Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient.

[Fibromuscular dysplasia].

Fibromuscular dysplasia is an idiopathic, segmental, nonatherosclerotic and noninflammatory disease of the muscle layer of arterial walls that leads to stenosis of small- and medium-sized arteries. Fibromuscular dysplasia preferentially affects young women. Although it can affect every arterial tree, it most often touches the renal and internal carotid arteries.

Inheritance of arterial lesions in renal fibromuscular dysplasia.

We have previously shown that patients with renal fibromuscular dysplasia (FMD) have asymptomatic carotid lesions and that familial forms may occur. The objective of this study was to test whether carotid lesions could be detected in relatives of familial cases. High-resolution echotracking of the carotid artery was performed in 47 relatives of 13 cases from six families.

[Vascular Ehlers-Danlos syndrome].

The vascular type of Ehlers-Danlos syndrome (EDS) is a rare genetic disease transmitted as an autosomal dominant trait. It is distinguished from other forms of EDS by its unstable acrogeric morphotype and by vascular, gastrointestinal, and obstetrical complications. Diagnosis is based on various clinical signs, noninvasive imaging, and on the identification of a mutation of the COL3A1 gene, which provides diagnostic certainty but has a sensitivity of only 61%.

Alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia.

Objective: We previously showed that fibromuscular dysplasia (FMD) of the renal artery may be familial. Case reports have associated alpha1-antitrypsin deficiency and FMD. The aim of this study was to test the implication of the alpha1-antitrypsin (AAT) gene in a large cohort of patients with renal FMD.

[Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings].

Objective: The aim of this study was to describe, for the first time, the capillary angio-architecture during pseudoxanthoma elasticum, a rare genetic disease related to mutations in the ABCC6 gene, of which the systemic calcifying involvement is responsible notably for very severe cardiovascular complications. Method Seven patients suffering from clinically and histologically documented confirmed pseudoxanthoma elasticum were examined with capillaroscopy, the absence of concomitant connective tIssue disease or diabetes having been checked beforehand.

Results: All the patients exhibited a microangiopathy, characterised by normal capillary density, frequent pericapillary oedema, excessively coiled fibres with a significantly increased number of minor dystrophies and, to varying degrees, a slowing down of capillary blood flow demonstrated by a sludge phenomenon.

Increased carotid wall stress in vascular Ehlers-Danlos syndrome.

Background: Vascular Ehlers-Danlos syndrome (vEDS), also known as EDS type IV, an inherited disorder of connective tissue, results from mutations in the gene encoding type III procollagen (COL3A1). Affected patients are at risk for arterial dissection or rupture, the main cause of death. To understand the pathogenesis of the vascular lesions, we used a biomechanical approach and determined steady and pulsatile wall stress.

[Subintimal angioplasty. Technique, results and role in the treatment of peripheral arterial occlusive disease].

Subintimal angioplasty consists in entering the subintimal space proximal to the occlusion, traversing the occlusion creating by angioplasty a subintimal channel exiting downstream in the natural lumen. Major complications rarely occur but compromising important collaterals or run-off vessels may be very deleterious. Subintimal angioplasty is indicated in patients with critical limb ischemia, unfit for anesthesia or in the absence of a suitable venous conduit.

[Mendelian arterial diseases. Pseudoxanthoma elasticum, Ehlers-Danlos vascular syndrome, Rendu-Osler disease].

Understanding the features of the various hereditary vascular pathologies allows consideration and confirmation of the diagnosis, and a search for treatable hidden disorders, avoiding harmful investigations, initiating follow up, performing family investigations and providing genetic counselling. Pseudoxanthoma elasticum must be considered in the presence of calcified distal arteriopathy of the lower limbs in a young subject without any other aetiological aspects. Cutaneous or mucosal lesions confirmed on histological examination, angioid streaks at the back of the eye and a family history support the diagnosis, which is confirmed by showing pathogenic mutations of the ABCC6 gene.

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).

Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing.

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, resulting in decreased vision, skin lesions, and life-threatening vascular disease, with highly variable phenotypic expression. The PXE locus has been mapped to chromosome 16p13.1, and was recently further refined to a 500 kb-region, containing two pseudogenes and four candidate genes.

[The course of a case of Maffucci's syndrome].

The syndrome of Maffucci is characterized by angioma association of the enchondromatose. It is a relatively rare syndrome. The lesions are evolutived.