scholarly journals Ehlers-Danlos syndrome presenting with primary nocturnal enuresis

2020 ◽  
Vol 13 (2) ◽  
pp. e231977
Author(s):  
Margarida Cunha ◽  
Mafalda Matias ◽  
Inês Marques
Keyword(s):  
Genetic Testing ◽  
Nocturnal Enuresis ◽  
Bladder Dysfunction ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Urinary Urgency ◽  
Beighton Score ◽  
Ehlers Danlos Syndrome ◽  
Primary Nocturnal Enuresis ◽  
Danlos Syndrome

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.

scholarly journals Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Trinh Hermanns-Lê ◽  
Marie-Annick Reginster ◽  
Claudine Piérard-Franchimont ◽  
Philippe Delvenne ◽  
Gérald E. Piérard ◽  
...  
Keyword(s):  
Clinical Parameter ◽  
Joint Hypermobility ◽  
Elastic Fibers ◽  
Hypermobility Syndrome ◽  
Beighton Score ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Asymptomatic Subjects ◽  
Danlos Syndrome

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

scholarly journals Carpometacarpal Arthroplasty and Ulnar Collateral Ligament Reconstruction in a Patient with Suspected Ehlers-Danlos Syndrome: A Case Report and Review of the Literature

2019 ◽  
Vol 12 (S 01) ◽  
pp. S64-S66
Author(s):  
Scott Samona ◽  
Michelle Palazzo
Keyword(s):  
Ligament Reconstruction ◽  
Ulnar Collateral Ligament ◽  
Metacarpophalangeal Joint ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Collateral Ligament ◽  
Ehlers Danlos Syndrome ◽  
History Of ◽  
Thumb Carpometacarpal ◽  
Danlos Syndrome

AbstractEhlers-Danlos syndrome (EDS) is a disorder that presents with a heterogeneous constellation of symptoms, ranging from clinically silent to rapidly deteriorating. It is a multisystemic connective tissue disorder that may result in any number of manifestations, with joint hypermobility being a classic manifestation. We present a case of a 58-year-old woman, with suspected EDS, who presented with several years’ history of bilateral thumb pain, with imaging and physical examination findings consistent with bilateral thumb carpometacarpal (CMC) arthritis with metacarpophalangeal joint (MPJ) hypermobility. The Beighton hypermobility score was consistent with suspected EDS. Our patient underwent thumb CMC arthroplasty with ulnar collateral ligament (UCL) reconstruction.

scholarly journals Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Delia Lorenz ◽  
Wolfram Kress ◽  
Ann-Kathrin Zaum ◽  
Christian P. Speer ◽  
Helge Hebestreit
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Compound Heterozygous ◽  
Ehlers Danlos Syndrome ◽  
Craniofacial Features ◽  
Chain Synthesis ◽  
Compound Heterozygous Variants ◽  
Danlos Syndrome

Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. Presentation of cases We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. Conclusions This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

scholarly journals Proprioceptive imprecision in Ehlers-Danlos Syndrome does not affect the extent of sensorimotor plasticity

2021 ◽  
Author(s):  
Holly A. Clayton ◽  
Bernard Marius ’t Hart ◽  
Denise Y. P. Henriques
Keyword(s):  
Visual Feedback ◽  
Joint Hypermobility ◽  
Hand Position ◽  
Beighton Score ◽  
Ehlers Danlos Syndrome ◽  
Afferent Information ◽  
Sensorimotor Plasticity ◽  
Induced Changes ◽  
Danlos Syndrome

SummaryPurposeTo explore the effect of joint hypermobility on acuity, and plasticity, of hand proprioception.Materials and MethodsWe compared proprioceptive acuity between EDS patients and controls. We then measured any changes in their estimate of hand position after participants adapted their reaches in response to altered visual feedback of their hand. The Beighton Scale was used to quantify the magnitude of joint hypermobility.ResultsThere were no differences between the groups in the accuracy of estimates of hand location, nor in the visually-induced changes in hand location. However, EDS patients’ estimates were less precise when based purely on proprioception and could be moderately predicted by Beighton score.ConclusionsEDS patients are less precise at estimating their hand’s location when only afferent information is available, but the presence of efferent signalling may reduce this imprecision. Those who are more hypermobile are more likely to be imprecise. This deficit likely has peripheral origins since we found no differences in the extent of sensorimotor plasticity.

scholarly journals Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

2012 ◽  
Vol 2012 ◽  
pp. 1-22 ◽  
Author(s):  
Marco Castori
Keyword(s):  
Connective Tissue ◽  
Correct Diagnosis ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Point Of Interest ◽  
Wide Range ◽  
Systemic Manifestations ◽  
Danlos Syndrome

Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners’ awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.

scholarly journals Effects of Rhythmic Sensory Stimulation on Ehlers–Danlos Syndrome: A Pilot Study

2020 ◽  
Vol 2020 ◽  
pp. 1-10
Author(s):  
Veronica Vuong ◽  
Abdullah Mosabbir ◽  
Denise Paneduro ◽  
Larry Picard ◽  
Hanna Faghfoury ◽  
...  
Keyword(s):  
Pilot Study ◽  
Sensory Stimulation ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Pain Interference ◽  
Depression Symptoms ◽  
Open Label ◽  
Ehlers Danlos Syndrome ◽  
Low Frequencies ◽  
Danlos Syndrome

Ehlers–Danlos syndrome (EDS) is a connective tissue disorder characterized by joint hypermobility and skin extensibility and is often accompanied by chronic pain. Rhythmic sensory stimulation (RSS) can be defined as the stimulation of the senses in a periodic manner within a range of low frequencies. Music plus sound delivered through a vibroacoustic device is a form of RSS and has demonstrated utility in managing pain. In this current study, we conducted an open-label pilot study of 15 patients with hypermobile EDS using RSS as the intervention. Posttreatment improvements were seen in 11 of the 15 patients (73%), whereas 3 of the 15 patients (20%) experienced worse outcomes. Of the 14 patients that completed the experiment, 6 participants (43%) were classified as “responders” to the device while 8 participants (57%) were classified as “nonresponders.” Responders demonstrated significant improvements in pain interference (51.5 ± 16 preintervention vs. 43.5 ± 16.4 postintervention BPI score) and depression symptoms (34.0 ± 15.9 preintervention vs. 26.8 ± 12.1 postintervention CESD score). Poststudy interviews confirm the improvements of pain interference, mood, and bowel symptoms. Furthermore, analysis of medical conditions within the responder group indicates that the presence of depression, anxiety, irritable bowel syndrome, and fibromyalgia may indicate a greater likelihood for patients to benefit with vibroacoustic applications. These results indicate a possible potential for RSS, delivered using a vibroacoustic device, in managing pain-related symptoms. Further research is necessary to elucidate the exact mechanism behind the physiological benefits of RSS.

scholarly journals Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1928
Author(s):  
Lucia Micale ◽  
Thomas Foiadelli ◽  
Federica Russo ◽  
Luigia Cinque ◽  
Francesco Bassanese ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Sanger Sequencing ◽  
Digital Pcr ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
The Novel ◽  
Ehlers Danlos Syndrome ◽  
Targeted Ngs ◽  
Next Generation Sequencing Ngs ◽  
Danlos Syndrome

(1) Background: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by joint hypermobility and skin hyperextensibility with atrophic scarring. Many cEDS individuals carry variants in either the COL5A1 or COL5A2 genes. Mosaicism is relatively common in heritable connective tissue disorders but is rare in EDS. In cEDS, a single example of presumed gonosomal mosaicism for a COL5A1 variant has been published to date. (2) Methods: An 8-year-old girl with cEDS was analyzed by next-generation sequencing (NGS). Segregation was performed by Sanger sequencing in her unaffected parents. In the father, the mosaicism of the variant was further analyzed by targeted NGS and droplet digital PCR (ddPCR) in the blood and by Sanger sequencing in other tissues. (3) Results: The NGS analysis revealed the novel germline heterozygous COL5A1 c.1369G>T, p.(Glu457*) variant in the proband. Sanger chromatogram of the father’s blood specimen suggested the presence of a low-level mosaicism for the COL5A1 variant, which was confirmed by NGS and estimated to be 4.8% by ddPCR. The mosaicism was also confirmed by Sanger sequencing in the father’s saliva, hair bulbs and nails. (4) Conclusions: We described the second case of cEDS caused by paternal gonosomal mosaicism in COL5A1. Parental mosaicism could be an issue in cEDS and, therefore, considered for appropriate genetic counseling.

scholarly journals A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome

Animals ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 2002
Author(s):  
Joana G. P. Jacinto ◽  
Irene M. Häfliger ◽  
Inês M. B. Veiga ◽  
Anna Letko ◽  
Cinzia Benazzi ◽  
...  
Keyword(s):  
Clinical Investigation ◽  
Missense Variant ◽  
Causal Variant ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Large Animal Model ◽  
Large Animal ◽  
Ehlers Danlos Syndrome ◽  
Skin Fragility ◽  
Danlos Syndrome

Classical Ehlers–Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by variable degrees of skin hyperextensibility and fragility, atrophic scarring, and generalized joint hypermobility. The purpose of this study was to characterize the clinicopathological phenotype of a cEDS-affected Holstein calf and to identify the causative genetic variant associated with the disorder by whole-genome sequencing (WGS). A 3-day-old female Holstein calf was referred because of easily induced skin detachment and hyperextensibility in the neck. A complete clinical investigation was performed in the calf, dam, and maternal-grandmother. The calf and dam showed hyperextensibility of the neck skin and atrophic scarring; additionally, the calf presented skin fragility. Moreover, the histopathology of biopsies from the calf and its dam showed that the collagen bundles in affected skin areas were wavy, short, thin, and surrounded by edema and moderate to severe acute hemorrhages. Genetic analysis revealed a private heterozygous missense variant in COL5A2 (c.2366G>T; p.Gly789Val) that was present only in the calf and dam. This confirmed the diagnosis of cEDS and represents the first report of a causal variant for cEDS in cattle and the first COL5A2-related large animal model.

scholarly journals Anesthetic Management of a Patient With Ehlers-Danlos Syndrome

2016 ◽  
Vol 63 (4) ◽  
pp. 204-207 ◽  
Author(s):  
Naohiro Ohshita ◽  
Masahiko Kanazumi ◽  
Kaname Tsuji ◽  
Hiroaki Yoshida ◽  
Shosuke Morita ◽  
...  
Keyword(s):  
Postoperative Pain ◽  
Connective Tissue ◽  
Anesthetic Management ◽  
Synovial Chondromatosis ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Disease Type ◽  
Clinical Feature ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

We describe the case of a 37-year-old woman who had been diagnosed with Ehlers-Danlos syndrome (EDS) 4 years earlier and was scheduled to undergo removal of synovial chondromatosis in the temporomandibular joint. EDS is a heritable connective tissue disorder and has 6 types. In this case, the patient was classified into EDS hypermobility type. The major clinical feature of this type is joint hypermobility. The patient had sprain or subluxation of the elbows and ankles and dislocation of the knees. Anticipated problems during general anesthesia would be affected by the disease type. For this patient, extra attention was directed to positional injury–induced neuropathy and articular luxation, cutaneous injuries, injuries related to intubation and ventilation, and postoperative pain. Anesthesia was induced with propofol, remifentanil, and rocuronium and maintained with oxygen-air-desflurane, propofol, remifentanil, fentanyl, and rocuronium. In this case, the patient was safely managed without adverse events.

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