Among the 23 subjects with limited workup, 5 (21.74%) presented with a rheumatological disease (psoriasis, RA, PMR). [acrabstracts.org]

The presently reported ultrastructural findings are in line with such concept. The present study represents the first attempt using skin ultrastruture for distinguishing EDSH and JHS from FM. [omicsonline.org]

Due to the patient’s presentation, we felt that he was presenting with a threatened limb and the patient was emergently taken to the peripheral catheterization laboratory for angiography. [vasculardiseasemanagement.com]

Patients present with varying degrees of hyperelastic skin, joint hypermobility, and tissue fragility (including that of vasculature). [amboss.com]

E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]

• Surgical Procedure

  Different surgical procedures have been advocated, but there is no large serial study currently available to demonstrate the superiority of any one option. [karger.com]

  procedures can correct dislocation Intervention for pain management is necessary A regular exercise program can strengthen muscles and stabilize joints Cardiovascular Enlarged aortic root can be treated with beta blockers but the efficacy or length of [en.wikibooks.org]

  procedures, since wound healing may be compromised If surgery becomes necessary, then taking precautions against bleeding before, during and after surgery Proper counseling and medical care for women before and during pregnancy, as well as during and [dovemed.com]

  Surgical procedures have been used to improve skeletal stability and improve quality of life; for examples and reviews, see references 2-4. The EDS syndromes as a group also have a classification system. [forgottendiseases.org]

  Hemorrhage may be difficult to control during surgical procedures. [cda-adc.ca]

• Short Finger

  Blue sclera, short fingers, and short statue are also common in this form of EDS. 4 Potential Etiologies Ehlers-Danlos is said to be a genetic disorder. [morphopedics.wikidot.com]

  Other distinctive features are delayed closure of the fontanels, characteristic facies, edema of the eyelids, blue sclerae, umbilical hernia, short fingers, and short stature. [nature.com]

• Vomiting

  Case Report A 20-year-old female patient was referred to our hospital with abdominal pain, nausea and vomiting. Physical examination revealed mild hypotension and a distended, tender abdomen. [karger.com]

  Women with EDS may be more than usually prone to nausea, vomiting and vertigo. Most suggested treatments have not been shown in studies to be useful. Many people with EDS experience regular headaches, which tend to get worse in early pregnancy. [patient.info]

• Hypotension

  These crises are often accompanied by postural orthostatic hypotension (POTS) which plays an important role in the sensation of fatigue [7, 12]. They are habitually painful, even very painful. [symbiosisonlinepublishing.com]

  Condition can be manifested as premature atrial complexes, paroxysmal supraventricular tachycardia, neurally mediated hypotension (NMH), or postural orthostatic tachycardia syndrome (POTS). [physio-pedia.com]

  Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery. 2004; 54 :65–70. [ PubMed : 14683542 ] Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. [ncbi.nlm.nih.gov]

  Physical examination revealed mild hypotension and a distended, tender abdomen. Her vital signs were a temperature of 37.9°C, a heart rate of 98 beats per minute and a blood pressure of 97/49 mm Hg. [karger.com]

  […] palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Hyperlordosis Prominent swayback 0003307 Hypertension 0000822 Hypotension [rarediseases.info.nih.gov]

• Fracture

  Moreover, the breakdown of joint cartilage lessens its ability to cushion bones and ligaments, resulting in splintered bones, fractures, or ligament strain. [scoliosisassociates.com]

  At 1 week old he suffered a spontaneous fracture of his right femur during bathing and at the age of 7 years he fractured his skull in a minor fall; subsequent skull x rays showed multiple wormian bones. [jmg.bmj.com]

  People with this type of OI suffer bone fractures as a result of minor or no trauma (e.g. diapering an infant). Fractures can occur in the newborn period or early infancy, but more usually tend appear when a child begins to walk (and fall). [forgottendiseases.org]

  […] an anteroposterior hump) Muscle hypotonia Other features Ocular fragility Skin fragility Easy bruisability Dermal hyperextensibility Risk for arterial rupture Most have radiologically detectable osteopenia (decreased bone density), but pathological fractures [en.wikibooks.org]

  Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC. Am J Med Genet A. 2008 Dec 1. 146A(23):3054-7. [Medline]. Solomons J, Coucke P, Symoens S, Cohen MC, Pope FM, Wagner BE, et al. [emedicine.medscape.com]

• Joint Subluxation

  […] to promote increased joint stability and decrease likelihood of joint subluxation/dislocation, especially in upper extremity joints and vertebral joints Ophthalmologist Consultation to screen for myopia, retinal tears, and keratoconus common in individuals [physio-pedia.com]

  Severe joint hypermobility. Recurrent subluxations. Autosomal dominant COL1A1 COL1A2 Dermatos- paraxia type EDS VIIC Severe skin fragility. Easy bruising. Hernias. [laeknabladid.is]

  subluxations/dislocations Clubfoot Congenital dislocation of the hips Early-onset varicose veins Easy bruising Gingival recession Hypermobility of small joints Pneumothorax/pneumohemothorax Tendon/muscle rupture Thin, translucent skin a Any two major [raredr.com]

  Tendon/muscle rupture Early-onset varicose veins Arteriovenous carotid-cavernous sinus fistula Pneumothorax/pneumohemothorax Chronic joint subluxations/dislocations Congenital dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession [uwcpdx.org]

  Recurrent temporomandibular joint subluxation and facial ecchymosis leading to diagnosis of Ehlers-Danlos syndrome. J Oral Maxillofac Surg 1990; 48(6):641-7. 24. Jones ML. Orthodontic treatment in Ehlers-Danlos syndrome. [cda-adc.ca]

• Delayed Wound Healing

  Case report A 12-year-old girl presented to the Department of Dermatology at The Cleveland Clinic Foundation in January 1982, with a history of delayed wound healing, easy bruisability, and double-jointedness. [mdedge.com]

  wound healing Kyphoscoliotic EDS Kyphoscoliotic EDS (kEDS) is rare. [nhs.uk]

  wound healing with atrophic scarring. [3] People with lax joints and multiple scars were first described in the medical writings of Hippocrates, dating back to 400 BCE. [4] In 1892, Dr. [emedicine.medscape.com]

• Skin Disease

  Co-morbidities Many different medical conditions/disease states occur in individuals with EDS. [physio-pedia.com]

• Stroke

  (oral) Shinsuke Sato Stroke　April 16, 2017 Sapporo, Japan Vein graft bypassの工夫　単純CT　3D-venographyによる適切なsaphenous vein graft選択を中心に 岡田芳和 Stroke　April 16, 2017 Sapporo, Japan 脳卒中における低Na血症 島彰吾 Stroke　April 16, 2017 Sapporo, Japan 当院におけるHybrid手術室の利用 井上龍也 Stroke [hospital.luke.ac.jp]

  Thus, it is still unclear how somatosensory information affects AP postural sway in stroke patients. [journal.frontiersin.org]

  […] fair-skinned individuals, subcutaneous vasculature is easily visible beneath the skin Arterial/intestinal/uterine fragility or rupture which can be life threatening Extensive bruising Other characteristics Normal scar formation May be increased incidence of stroke [en.wikibooks.org]

  EDS type IV should therefore be considered after any ischemic stroke in young subject [ 5, 23 ]. [ojrd.biomedcentral.com]

  Blood vessels can spontaneously rupture causing internal bleeding, stroke, and shock. [morphopedics.wikidot.com]

Subjects were further sorted into the categories of “no rheumatological workup” (ie physical exam only), “limited workup” (ie only ANA and RF), or “complete workup” (all serological markers, HLA B27, ESR, and CRP, etc). [acrabstracts.org]

The treatment for a patient with EDS can include small specific mobilization (slower and gentler movement than manipulation) from the chiropractor. [applehealthwellness.com]

She started progressively on a treatment with Modopar (62,5mg q3d). [symbiosisonlinepublishing.com]

Seeking a Diagnosis and Treatment For a parent, EDS feels like walking through a minefield with your child. [complexchild.org]

Each specific treatment protocol is individually designed and specialized for the affected individual in order to meet the needs of that specific patient. [physio-pedia.com]

Current treatment options for EDS include: physical therapy (used to rehabilitate those with joint and muscle instability) surgery to repair damaged joints drugs to minimize pain Additional treatment options may be available depending on the amount of [healthline.com]

Progress and Prognosis of EDS While prognosis depends on the type of the syndrome, early diagnosis certainly increases the life span and improves life quality. [lecturio.com]

In genetic advising and prognosis of the EDS patients, there is a need for new tools to separate them from hypermobile patients. [ehlersdanlos.ca]

Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376} [amboss.com]

The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]

[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]

Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 → defective connective tissue microfibrils → defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes [amboss.com]

Etiology of EDS Ehlers-Danlos syndrome caused by gene mutations More than a dozen gene mutations have been found in association with EDS. The classical type of the disease is a consequence of mutation in either COL5A1 or COL5A2 gene. [lecturio.com]

The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment. [avensonline.org]

(Etiology) Ehlers-Danlos Syndrome, Arthrochalasia Type is caused by mutation(s) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, which is found in abundance in the human body. [dovemed.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Epidemiology of EDS While mild or incomplete forms are more common but undiagnosed, the prevalence of EDS is 1 in 400.000 people. It is often diagnosed in childhood and has no racial predominance. [lecturio.com]

A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]

Epidemiology Frequency International Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency. [emedicine.medscape.com]

Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.com]

Other gene mutations include: TNXB (small percentage in hypermobility type) COL3A1 (vascular type) PLODA1 (kyphoscoliosis type) COL1A1, COL1A2 (arthrochalasia type) ADAMTS2 (dermatosparixis) Pathophysiology of EDS The inherited group of disorders is a [lecturio.com]

Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]

Jahan F, Nanji K, Qidwai W, Qasim R (2012) Fibromyalgia syndrome: an overview of pathophysiology, diagnosis and management. Oman Med J 27: 192-195. [omicsonline.org]

Physical therapy aims to improve strength of muscles surrounding a joint, thereby stabilizing the area and preventing dislocations. [scoliosisassociates.com]

In additional, there are several steps you can take to prevent injury. [healthline.com]

Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications. [amboss.com]

Ehlers-Danlos Syndrome, Arthrochalasia Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

Schulz Authors note: Texas A&M University Year: 2000 Reference: Veterinaria n.2 Supplemento Dicembre 2000 Pages: 5 - 15 Download attachments: PDF (20249 Downloads) Related items Leishmaniasis prevention: what should be known before recommending a topical [veterinaria.scivac.org]