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Danlos Syndrome (Danlo + syndrome)

Distribution by Scientific Domains
Medical Sciences90%
Distribution within Medical Sciences
Dermatology33%

Selected Abstracts

Ehlers,Danlos Syndrome and Anorexia Nervosa: A Dangerous Combination?

PEDIATRIC DERMATOLOGY, Issue 3 2007
Stacia C. Miles M.D.
Although prior occurrences of pneumomediastinum and visceral perforations have been reported in adolescents with isolated anorexia nervosa or Ehlers,Danlos syndrome, to our knowledge this is the first instance to be noted in a patient with both conditions. We explore several possibilities regarding the etiology of his mediastinal air, but ultimately conclude that it was the existence of Ehlers,Danlos syndrome in the presence of anorexia nervosa that led to the development of this dangerous condition. [source]

Absence of inferior labial or lingual frenula is not a useful clinical marker for Ehlers,Danlos syndrome in the UK

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 10 2006
S Shankar
[source]

The efficiency of laser for the treatment of Ehlers,Danlos syndrome

LASERS IN SURGERY AND MEDICINE, Issue 2 2005
Daniel F. Mueller MD
Abstract Background and Objectives A 61-year-old woman presented herself with extensive elastosis of the facial skin caused by Ehlers,Danlos syndrome (EDS). Study Design/Materials and Methods Two laser skin resurfacings reduced the wrinkles significantly better than the two preceding conventional facelifts. For the first time, we have been able to compare two treatments with different laser systems on the same patient. The first treatment was performed with a high energy pulsed CO2 laser, which has been in use for 8 years. The second treatment was performed by us using the latest technology CO2/erbium:YAG combination laser. Results/Conclusion Resulting in a similar degree of wrinkle reduction, the treatment with the combination laser markedly reduced the duration of the healing process and erythema phase. Lasers Surg. Med. 36:76,78, 2005. © 2005 Wiley-Liss, Inc. [source]

Ehlers,Danlos Syndrome and Anorexia Nervosa: A Dangerous Combination?

PEDIATRIC DERMATOLOGY, Issue 3 2007
Stacia C. Miles M.D.
Although prior occurrences of pneumomediastinum and visceral perforations have been reported in adolescents with isolated anorexia nervosa or Ehlers,Danlos syndrome, to our knowledge this is the first instance to be noted in a patient with both conditions. We explore several possibilities regarding the etiology of his mediastinal air, but ultimately conclude that it was the existence of Ehlers,Danlos syndrome in the presence of anorexia nervosa that led to the development of this dangerous condition. [source]

Neuromuscular involvement in various types of Ehlers,Danlos syndrome,

ANNALS OF NEUROLOGY, Issue 6 2009
Nicol C. Voermans MD
Objective Ehlers,Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered interactions between muscle cells and extracellular matrix molecules; however, muscle symptoms are only sporadically reported. We designed a cross-sectional study to find out whether neuromuscular features are part of EDS. Methods Standardized questionnaires, physical examination, nerve conduction studies, electromyography, muscle ultrasound, and muscle biopsy were performed in 40 EDS patients with the vascular, classic, tenascin-X (TNX),deficient type EDS, and hypermobility type of EDS caused by TNXB haploinsufficiency. Results Muscle weakness, myalgia, and easy fatigability were reported by the majority of patients. Mild-to-moderate muscle weakness (85%) and reduction of vibration sense (60%) were common. Nerve conduction studies demonstrated axonal polyneuropathy in five patients (13%). Needle electromyography myopathic features in nine patients (26%) and a mixed neurogenic-myopathic pattern in most (60%). Muscle ultrasound showed increased echo-intensity (48%) and atrophy (50%). Mild myopathic features were seen on muscle biopsy of five patients (28%). Overall, patients with the hypermobility type EDS caused by TNXB haploinsufficiency were least affected. Interpretation Mild-to-moderate neuromuscular involvement is common in various types of EDS, with a remarkable relation between residual TNX level and degree of neuromuscular involvement, compatible with a dose,effect relation. The findings of this study should increase awareness of neuromuscular symptoms in EDS patients and improve clinical care. They also point to a role of the extracellular matrix in muscle and peripheral nerve function. This is an updated version of this article that originally published online on June 29, 2009. Ann Neurol 2009;65:687,697 [source]

Blepharoclonus and Arnold,Chiari malformation

ACTA NEUROLOGICA SCANDINAVICA, Issue 2 2001
M.D. Daniel E. Jacome
Objective, Blepharoclonus (BLC) denotes a large amplitude, involuntary tremors of the orbicularis oculi muscles, observed during gentle closure of the eyelids. BLC may follow major head trauma. Four patients with Arnold,Chiari malformation (ACM) and BLC are described. Materials and methods, The first patient had facial numbness for 5 months; the remaining patients had headaches following minor head or cervical spinal injuries. Brain magnetic resonance imaging (MRI), electroencephalogram (EEG) blink reflexes, mental and facial nerve responses and facial electromyogram (EMG) were performed. Results, All patients exhibited ACM on brain MRI. The first patient had coincidental dural venous malformation, empty-sella turcica and familial digital dysplasia. She exhibited oculopterygoid synkinesis. The last 3 patients had posttraumatic headache; the second and third patients had limited features of Ehlers,Danlos syndrome (EDS). The second patient had cervical spinal fusion and the fourth a cervical syrinx. All the patients had BLC on gentle eyelid closure. Conclusion, BLC is an underdiagnosed neuro-ophthalmological sign of ACM. [source]

Elastic fiber abnormalities in hypermobility type Ehlers,Danlos syndrome patients with tenascin-X mutations

CLINICAL GENETICS, Issue 4 2005
MC Zweers
Ehlers,Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders with characteristic skin and joint involvement. The concept that EDS is a disease of fibrillar collagen was challenged by the identification of a clinically distinct, recessive type of EDS caused by deficiency of the extracellular matrix protein tenascin-X (TNX). Interestingly, haploinsufficiency of TNX is associated with the dominantly inherited hypermobility type of EDS. In this study, we examined whether missense mutations in the TNX gene can account for some of the cases of hypermobility type EDS. Furthermore, we studied whether missense mutations or heterozygosity for truncating mutations in the TNX gene lead to alterations in the dermal connective tissue. Sequence analysis revealed three missense mutations in TNX in hypermobility type EDS patients, which were not present in 192 control alleles. Morphometric analysis of skin biopsies of these patients showed altered elastic fibers in one of them, suggesting that this missense mutation is disease causing. Light microscopic and ultrastructural changes of the elastic fibers were observed in TNX-haploinsufficient hypermobility type EDS patients, which were not found in hypermobility type EDS patients in whom TNX mutations were excluded. Our results indicate that the observed alterations in elastic fibers are specific for hypermobility type EDS patients with mutations of TNX. [source]

GENETIC INFLUENCES ON THE ARTERIAL WALL

CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY, Issue 7 2007
Bronwyn Kingwell
SUMMARY 1Arterial stiffness, which has independent predictive value for cardiovascular events, seems to have a genetic component, largely independent of the influence of blood pressure and other cardiovascular risk factors. 2In animal models of essential hypertension (stroke-prone spontaneously hypertensive rats and spontaneously hypertensive rats), structural modifications of the arterial wall include an increase in the number of elastin,smooth muscle cell connections and smaller fenestrations of the internal elastic lamina, possibility leading to redistribution of the mechanical load towards elastic materials. These modifications may give rise to mechanisms explaining why changes in arterial wall material accompanying wall hypertrophy in these animals are not associated with an increase in arterial stiffness. 3In monogenic connective tissue diseases (Marfan, Williams and Ehlers,Danlos syndromes) and the corresponding animal models, precise characterization of the arterial phenotype makes it possible to determine the influence of abnormal, genetically determined, wall components on arterial stiffness. 4Such studies have highlighted the role of extracellular matrix signalling in the vascular wall and have shown that elastin and collagen not only display elasticity or rigidity, but are also involved in the control of smooth muscle cell function. 5These data provide strong evidence that arterial stiffness is affected by the amount and density of stiff wall material and the spatial organization of that material. [source]